Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction
Purpose Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver–Russell syndrome (SRS), a syndromic form of fetal...
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| Veröffentlicht in: | Genetics in medicine 2018-02, Vol.20 (2), p.250-258 |
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| creator | Abi Habib, Walid Brioude, Frédéric Edouard, Thomas Bennett, James T Lienhardt-Roussie, Anne Tixier, Frédérique Salem, Jennifer Yuen, Tony Azzi, Salah Le Bouc, Yves Harbison, Madeleine D Netchine, Irène |
| description | Purpose
Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver–Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.
Methods
Whole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients. Functional experiments were then used to link these genes into a regulatory pathway.
Results
We report the first mutations of the
PLAG1
gene in humans, as well as new mutations in
HMGA2
and
IGF2
in six sporadic and/or familial cases of SRS. We demonstrate that HMGA2 regulates
IGF2
expression through PLAG1 and in a PLAG1-independent manner.
Conclusion
Genetic defects of the
HMGA2
–
PLAG1
–
IGF2
pathway can lead to fetal and postnatal growth restriction, highlighting the role of this oncogenic pathway in the fine regulation of physiological fetal/postnatal growth. This work defines new genetic causes of SRS, important for genetic counseling. |
| doi_str_mv | 10.1038/gim.2017.105 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5846811</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1927835132</sourcerecordid><originalsourceid>FETCH-LOGICAL-c550t-33c259324f246cce4ff7e8018c821025a0dc118aa7e7b399fcae63a598bd865f3</originalsourceid><addsrcrecordid>eNptkU1vEzEQhlcIREvhxhlZ4gISW_wRf12QoopuKgXBAc7GcexdVxs72N5WvfEf-If8ErxKKVBxGo_n8TueeZvmOYKnCBLxtve7UwwRrxl90BwjSmALCWMP6xlK0RIG4VHzJOdLWCmC4ePmCAsuGSbsuPna2WCLN2Drc5r2xccAogNlsCAGE3sbam31oVvin99_fFovO1TjRXeOwV6X4VrfAKOnbDNwtugR9ClelwEkm0vyZlZ72jxyesz22W08ab6cv_98tmrXH7uLs-W6NZTC0hJiMJUELxxeMGPswjluBUTCCIwgphpuDUJCa275hkjpjLaMaCrFZisYdeSkeXfQ3U-bnd0aG0rSo9onv9PpRkXt1b-V4AfVxytFxYIJhKrA64PAcO_ZarlW8928PS4luprZV7fNUvw21WHVzmdjx1EHG6eskMRcEIoIrujLe-hlnFKoq1AYQo5I7c4r9eZAmRRzTtbd_QBBNdusqs1qtrlmtOIv_h72Dv7tawXaA5BrKfQ2_en6X8FfqyGy6w</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2007134687</pqid></control><display><type>article</type><title>Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Abi Habib, Walid ; Brioude, Frédéric ; Edouard, Thomas ; Bennett, James T ; Lienhardt-Roussie, Anne ; Tixier, Frédérique ; Salem, Jennifer ; Yuen, Tony ; Azzi, Salah ; Le Bouc, Yves ; Harbison, Madeleine D ; Netchine, Irène</creator><creatorcontrib>Abi Habib, Walid ; Brioude, Frédéric ; Edouard, Thomas ; Bennett, James T ; Lienhardt-Roussie, Anne ; Tixier, Frédérique ; Salem, Jennifer ; Yuen, Tony ; Azzi, Salah ; Le Bouc, Yves ; Harbison, Madeleine D ; Netchine, Irène</creatorcontrib><description>Purpose
Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver–Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.
Methods
Whole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients. Functional experiments were then used to link these genes into a regulatory pathway.
Results
We report the first mutations of the
PLAG1
gene in humans, as well as new mutations in
HMGA2
and
IGF2
in six sporadic and/or familial cases of SRS. We demonstrate that HMGA2 regulates
IGF2
expression through PLAG1 and in a PLAG1-independent manner.
Conclusion
Genetic defects of the
HMGA2
–
PLAG1
–
IGF2
pathway can lead to fetal and postnatal growth restriction, highlighting the role of this oncogenic pathway in the fine regulation of physiological fetal/postnatal growth. This work defines new genetic causes of SRS, important for genetic counseling.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2017.105</identifier><identifier>PMID: 28796236</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>631/208/2489/1381 ; 631/208/2489/144 ; 692/700/1720/3186 ; Biomedical and Life Sciences ; Biomedicine ; Cell Line ; Development Biology ; DNA-Binding Proteins - genetics ; DNA-Binding Proteins - metabolism ; Embryology and Organogenesis ; Epigenesis, Genetic ; Facies ; Female ; Fetal Growth Retardation - diagnosis ; Fetal Growth Retardation - genetics ; Fetal Growth Retardation - metabolism ; Gene Expression Regulation, Developmental ; Genes ; Genetic Association Studies ; Genetic counseling ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics ; Genotype ; Growth Charts ; HMGA2 Protein - genetics ; HMGA2 Protein - metabolism ; Human Genetics ; Humans ; Insulin-Like Growth Factor II - genetics ; Insulin-Like Growth Factor II - metabolism ; Laboratory Medicine ; Life Sciences ; Models, Biological ; Mutation ; Original ; original-research-article ; Pedigree ; Physical growth ; Prenatal development ; Signal Transduction ; Silver-Russell Syndrome - diagnosis ; Silver-Russell Syndrome - genetics ; Silver-Russell Syndrome - metabolism ; Whole Genome Sequencing</subject><ispartof>Genetics in medicine, 2018-02, Vol.20 (2), p.250-258</ispartof><rights>The Author(s) 2018</rights><rights>Copyright Nature Publishing Group Feb 2018</rights><rights>Attribution - NonCommercial - NoDerivatives</rights><rights>Copyright © 2018 The Author(s) 2018 The Author(s)</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c550t-33c259324f246cce4ff7e8018c821025a0dc118aa7e7b399fcae63a598bd865f3</citedby><cites>FETCH-LOGICAL-c550t-33c259324f246cce4ff7e8018c821025a0dc118aa7e7b399fcae63a598bd865f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2007134687?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,315,782,786,887,27933,27934,64394,64396,64398,72478</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28796236$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.sorbonne-universite.fr/hal-01737991$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Abi Habib, Walid</creatorcontrib><creatorcontrib>Brioude, Frédéric</creatorcontrib><creatorcontrib>Edouard, Thomas</creatorcontrib><creatorcontrib>Bennett, James T</creatorcontrib><creatorcontrib>Lienhardt-Roussie, Anne</creatorcontrib><creatorcontrib>Tixier, Frédérique</creatorcontrib><creatorcontrib>Salem, Jennifer</creatorcontrib><creatorcontrib>Yuen, Tony</creatorcontrib><creatorcontrib>Azzi, Salah</creatorcontrib><creatorcontrib>Le Bouc, Yves</creatorcontrib><creatorcontrib>Harbison, Madeleine D</creatorcontrib><creatorcontrib>Netchine, Irène</creatorcontrib><title>Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose
Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver–Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.
Methods
Whole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients. Functional experiments were then used to link these genes into a regulatory pathway.
Results
We report the first mutations of the
PLAG1
gene in humans, as well as new mutations in
HMGA2
and
IGF2
in six sporadic and/or familial cases of SRS. We demonstrate that HMGA2 regulates
IGF2
expression through PLAG1 and in a PLAG1-independent manner.
Conclusion
Genetic defects of the
HMGA2
–
PLAG1
–
IGF2
pathway can lead to fetal and postnatal growth restriction, highlighting the role of this oncogenic pathway in the fine regulation of physiological fetal/postnatal growth. This work defines new genetic causes of SRS, important for genetic counseling.</description><subject>631/208/2489/1381</subject><subject>631/208/2489/144</subject><subject>692/700/1720/3186</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell Line</subject><subject>Development Biology</subject><subject>DNA-Binding Proteins - genetics</subject><subject>DNA-Binding Proteins - metabolism</subject><subject>Embryology and Organogenesis</subject><subject>Epigenesis, Genetic</subject><subject>Facies</subject><subject>Female</subject><subject>Fetal Growth Retardation - diagnosis</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Fetal Growth Retardation - metabolism</subject><subject>Gene Expression Regulation, Developmental</subject><subject>Genes</subject><subject>Genetic Association Studies</subject><subject>Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Genotype</subject><subject>Growth Charts</subject><subject>HMGA2 Protein - genetics</subject><subject>HMGA2 Protein - metabolism</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Insulin-Like Growth Factor II - genetics</subject><subject>Insulin-Like Growth Factor II - metabolism</subject><subject>Laboratory Medicine</subject><subject>Life Sciences</subject><subject>Models, Biological</subject><subject>Mutation</subject><subject>Original</subject><subject>original-research-article</subject><subject>Pedigree</subject><subject>Physical growth</subject><subject>Prenatal development</subject><subject>Signal Transduction</subject><subject>Silver-Russell Syndrome - diagnosis</subject><subject>Silver-Russell Syndrome - genetics</subject><subject>Silver-Russell Syndrome - metabolism</subject><subject>Whole Genome Sequencing</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNptkU1vEzEQhlcIREvhxhlZ4gISW_wRf12QoopuKgXBAc7GcexdVxs72N5WvfEf-If8ErxKKVBxGo_n8TueeZvmOYKnCBLxtve7UwwRrxl90BwjSmALCWMP6xlK0RIG4VHzJOdLWCmC4ePmCAsuGSbsuPna2WCLN2Drc5r2xccAogNlsCAGE3sbam31oVvin99_fFovO1TjRXeOwV6X4VrfAKOnbDNwtugR9ClelwEkm0vyZlZ72jxyesz22W08ab6cv_98tmrXH7uLs-W6NZTC0hJiMJUELxxeMGPswjluBUTCCIwgphpuDUJCa275hkjpjLaMaCrFZisYdeSkeXfQ3U-bnd0aG0rSo9onv9PpRkXt1b-V4AfVxytFxYIJhKrA64PAcO_ZarlW8928PS4luprZV7fNUvw21WHVzmdjx1EHG6eskMRcEIoIrujLe-hlnFKoq1AYQo5I7c4r9eZAmRRzTtbd_QBBNdusqs1qtrlmtOIv_h72Dv7tawXaA5BrKfQ2_en6X8FfqyGy6w</recordid><startdate>20180201</startdate><enddate>20180201</enddate><creator>Abi Habib, Walid</creator><creator>Brioude, Frédéric</creator><creator>Edouard, Thomas</creator><creator>Bennett, James T</creator><creator>Lienhardt-Roussie, Anne</creator><creator>Tixier, Frédérique</creator><creator>Salem, Jennifer</creator><creator>Yuen, Tony</creator><creator>Azzi, Salah</creator><creator>Le Bouc, Yves</creator><creator>Harbison, Madeleine D</creator><creator>Netchine, Irène</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope></search><sort><creationdate>20180201</creationdate><title>Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction</title><author>Abi Habib, Walid ; Brioude, Frédéric ; Edouard, Thomas ; Bennett, James T ; Lienhardt-Roussie, Anne ; Tixier, Frédérique ; Salem, Jennifer ; Yuen, Tony ; Azzi, Salah ; Le Bouc, Yves ; Harbison, Madeleine D ; Netchine, Irène</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c550t-33c259324f246cce4ff7e8018c821025a0dc118aa7e7b399fcae63a598bd865f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>631/208/2489/1381</topic><topic>631/208/2489/144</topic><topic>692/700/1720/3186</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell Line</topic><topic>Development Biology</topic><topic>DNA-Binding Proteins - genetics</topic><topic>DNA-Binding Proteins - metabolism</topic><topic>Embryology and Organogenesis</topic><topic>Epigenesis, Genetic</topic><topic>Facies</topic><topic>Female</topic><topic>Fetal Growth Retardation - diagnosis</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Fetal Growth Retardation - metabolism</topic><topic>Gene Expression Regulation, Developmental</topic><topic>Genes</topic><topic>Genetic Association Studies</topic><topic>Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genetics</topic><topic>Genotype</topic><topic>Growth Charts</topic><topic>HMGA2 Protein - genetics</topic><topic>HMGA2 Protein - metabolism</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Insulin-Like Growth Factor II - genetics</topic><topic>Insulin-Like Growth Factor II - metabolism</topic><topic>Laboratory Medicine</topic><topic>Life Sciences</topic><topic>Models, Biological</topic><topic>Mutation</topic><topic>Original</topic><topic>original-research-article</topic><topic>Pedigree</topic><topic>Physical growth</topic><topic>Prenatal development</topic><topic>Signal Transduction</topic><topic>Silver-Russell Syndrome - diagnosis</topic><topic>Silver-Russell Syndrome - genetics</topic><topic>Silver-Russell Syndrome - metabolism</topic><topic>Whole Genome Sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Abi Habib, Walid</creatorcontrib><creatorcontrib>Brioude, Frédéric</creatorcontrib><creatorcontrib>Edouard, Thomas</creatorcontrib><creatorcontrib>Bennett, James T</creatorcontrib><creatorcontrib>Lienhardt-Roussie, Anne</creatorcontrib><creatorcontrib>Tixier, Frédérique</creatorcontrib><creatorcontrib>Salem, Jennifer</creatorcontrib><creatorcontrib>Yuen, Tony</creatorcontrib><creatorcontrib>Azzi, Salah</creatorcontrib><creatorcontrib>Le Bouc, Yves</creatorcontrib><creatorcontrib>Harbison, Madeleine D</creatorcontrib><creatorcontrib>Netchine, Irène</creatorcontrib><collection>Springer Nature OA/Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Abi Habib, Walid</au><au>Brioude, Frédéric</au><au>Edouard, Thomas</au><au>Bennett, James T</au><au>Lienhardt-Roussie, Anne</au><au>Tixier, Frédérique</au><au>Salem, Jennifer</au><au>Yuen, Tony</au><au>Azzi, Salah</au><au>Le Bouc, Yves</au><au>Harbison, Madeleine D</au><au>Netchine, Irène</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2018-02-01</date><risdate>2018</risdate><volume>20</volume><issue>2</issue><spage>250</spage><epage>258</epage><pages>250-258</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose
Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver–Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.
Methods
Whole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients. Functional experiments were then used to link these genes into a regulatory pathway.
Results
We report the first mutations of the
PLAG1
gene in humans, as well as new mutations in
HMGA2
and
IGF2
in six sporadic and/or familial cases of SRS. We demonstrate that HMGA2 regulates
IGF2
expression through PLAG1 and in a PLAG1-independent manner.
Conclusion
Genetic defects of the
HMGA2
–
PLAG1
–
IGF2
pathway can lead to fetal and postnatal growth restriction, highlighting the role of this oncogenic pathway in the fine regulation of physiological fetal/postnatal growth. This work defines new genetic causes of SRS, important for genetic counseling.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>28796236</pmid><doi>10.1038/gim.2017.105</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Genetics in medicine, 2018-02, Vol.20 (2), p.250-258 |
| issn | 1098-3600 1530-0366 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5846811 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | 631/208/2489/1381 631/208/2489/144 692/700/1720/3186 Biomedical and Life Sciences Biomedicine Cell Line Development Biology DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Embryology and Organogenesis Epigenesis, Genetic Facies Female Fetal Growth Retardation - diagnosis Fetal Growth Retardation - genetics Fetal Growth Retardation - metabolism Gene Expression Regulation, Developmental Genes Genetic Association Studies Genetic counseling Genetic Predisposition to Disease Genetic Variation Genetics Genotype Growth Charts HMGA2 Protein - genetics HMGA2 Protein - metabolism Human Genetics Humans Insulin-Like Growth Factor II - genetics Insulin-Like Growth Factor II - metabolism Laboratory Medicine Life Sciences Models, Biological Mutation Original original-research-article Pedigree Physical growth Prenatal development Signal Transduction Silver-Russell Syndrome - diagnosis Silver-Russell Syndrome - genetics Silver-Russell Syndrome - metabolism Whole Genome Sequencing |
| title | Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction |
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