Novel variants in the SOX11 gene: clinical description of seven new patients
Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the va...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2024-12, Vol.32 (12), p.1640-1646 |
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| creator | Schincariol-Manhe, Beatriz Campagnolo, Érica Spineli-Silva, Samira de Leeuw, Nicole Correia-Costa, Gabriela Roldão Pessoa, André de Souza, Carolina Fischinger Moura Stevens, Cathy Javaher, Poupak Scallet, Helena Fabbri Mohr, Julia Biskup, Saskia Herkert, Johanna C. Pfundt, Rolph Mehta, Lakshmi Rekab, Aisha Elloumi, Houda Zghal Sanyoura, May Maciel-Guerra, Andréa Trevas Gil-da-Silva-Lopes, Vera Lúcia dos Santos, Ana Mondadori Vieira, Társis Paiva |
| description | Pathogenic
SOX11
variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo
SOX11
variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with
SOX11
variants and supports the role of this gene in HH. |
| doi_str_mv | 10.1038/s41431-024-01695-8 |
| format | Article |
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SOX11
variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo
SOX11
variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with
SOX11
variants and supports the role of this gene in HH.</description><identifier>ISSN: 1018-4813</identifier><identifier>ISSN: 1476-5438</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-024-01695-8</identifier><identifier>PMID: 39333428</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>45/23 ; 45/61 ; 631/208/1516/1510 ; 692/308 ; Adolescent ; Adult ; Amenorrhea ; Attention deficit hyperactivity disorder ; Autism ; Bioinformatics ; Biomedical and Life Sciences ; Biomedicine ; Brief Communication ; Child ; Child, Preschool ; Collaboration ; Cryptorchidism ; Cytogenetics ; Female ; Gene deletion ; Gene Expression ; Genes ; Genetic engineering ; Genetic testing ; Human Genetics ; Humans ; Hypogonadism ; Hypogonadism - genetics ; Hypogonadism - pathology ; Intellectual disabilities ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; Laboratories ; Male ; Microcephaly ; Microcephaly - genetics ; Microcephaly - pathology ; Microencephaly ; Mutation ; Mutation, Missense ; Neurodevelopmental disorders ; Ovaries ; Patients ; Phenotype ; Proteins ; SOXC Transcription Factors - genetics ; Transcription factors ; Uterus</subject><ispartof>European journal of human genetics : EJHG, 2024-12, Vol.32 (12), p.1640-1646</ispartof><rights>The Author(s), under exclusive licence to European Society of Human Genetics 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to European Society of Human Genetics.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c256t-bc6ab662ce90cb0d3ba6da15fac0d633a04e567d0e55d627208d3997b20bd0383</cites><orcidid>0000-0003-0461-9102 ; 0000-0002-7280-6260 ; 0000-0002-9796-3342 ; 0000-0003-4027-8341</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39333428$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schincariol-Manhe, Beatriz</creatorcontrib><creatorcontrib>Campagnolo, Érica</creatorcontrib><creatorcontrib>Spineli-Silva, Samira</creatorcontrib><creatorcontrib>de Leeuw, Nicole</creatorcontrib><creatorcontrib>Correia-Costa, Gabriela Roldão</creatorcontrib><creatorcontrib>Pessoa, André</creatorcontrib><creatorcontrib>de Souza, Carolina Fischinger Moura</creatorcontrib><creatorcontrib>Stevens, Cathy</creatorcontrib><creatorcontrib>Javaher, Poupak</creatorcontrib><creatorcontrib>Scallet, Helena Fabbri</creatorcontrib><creatorcontrib>Mohr, Julia</creatorcontrib><creatorcontrib>Biskup, Saskia</creatorcontrib><creatorcontrib>Herkert, Johanna C.</creatorcontrib><creatorcontrib>Pfundt, Rolph</creatorcontrib><creatorcontrib>Mehta, Lakshmi</creatorcontrib><creatorcontrib>Rekab, Aisha</creatorcontrib><creatorcontrib>Elloumi, Houda Zghal</creatorcontrib><creatorcontrib>Sanyoura, May</creatorcontrib><creatorcontrib>Maciel-Guerra, Andréa Trevas</creatorcontrib><creatorcontrib>Gil-da-Silva-Lopes, Vera Lúcia</creatorcontrib><creatorcontrib>dos Santos, Ana Mondadori</creatorcontrib><creatorcontrib>Vieira, Társis Paiva</creatorcontrib><title>Novel variants in the SOX11 gene: clinical description of seven new patients</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>Pathogenic
SOX11
variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo
SOX11
variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with
SOX11
variants and supports the role of this gene in HH.</description><subject>45/23</subject><subject>45/61</subject><subject>631/208/1516/1510</subject><subject>692/308</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Amenorrhea</subject><subject>Attention deficit hyperactivity disorder</subject><subject>Autism</subject><subject>Bioinformatics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brief Communication</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Collaboration</subject><subject>Cryptorchidism</subject><subject>Cytogenetics</subject><subject>Female</subject><subject>Gene deletion</subject><subject>Gene Expression</subject><subject>Genes</subject><subject>Genetic engineering</subject><subject>Genetic testing</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hypogonadism</subject><subject>Hypogonadism - genetics</subject><subject>Hypogonadism - pathology</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - pathology</subject><subject>Laboratories</subject><subject>Male</subject><subject>Microcephaly</subject><subject>Microcephaly - genetics</subject><subject>Microcephaly - pathology</subject><subject>Microencephaly</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Neurodevelopmental disorders</subject><subject>Ovaries</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Proteins</subject><subject>SOXC Transcription Factors - genetics</subject><subject>Transcription factors</subject><subject>Uterus</subject><issn>1018-4813</issn><issn>1476-5438</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMFOGzEQhq2KqqRpX6AHZIkLly0z9q53lxtCQCtFcIBKvVleexKMNt5gb4J4-zpNoBKHnsbSfPPP-GPsG8J3BNmcphJLiQWIsgBUbVU0H9gEy1oVVSmbg_wGbIqyQXnIPqf0CJCbNX5ih7KVUpaimbDZzbChnm9M9CaMifvAxwfid7e_EfmCAp1x2_vgrem5o2SjX41-CHyY80QbCjzQM1-Z0VOe_sI-zk2f6Ou-Ttmvq8v7ix_F7Pb658X5rLCiUmPRWWU6pYSlFmwHTnZGOYPV3FhwSkoDJVWqdkBV5ZSoBTROtm3dCehc_ricspNd7ioOT2tKo176ZKnvTaBhnbREhFq0otmix-_Qx2EdQ74uU1kBoECZKbGjbBxSijTXq-iXJr5oBL11rXeudXat_7rW2-ijffS6W5J7G3mVmwG5A1JuhQXFf7v_E_sHiIyIFQ</recordid><startdate>202412</startdate><enddate>202412</enddate><creator>Schincariol-Manhe, Beatriz</creator><creator>Campagnolo, Érica</creator><creator>Spineli-Silva, Samira</creator><creator>de Leeuw, Nicole</creator><creator>Correia-Costa, Gabriela Roldão</creator><creator>Pessoa, André</creator><creator>de Souza, Carolina Fischinger Moura</creator><creator>Stevens, Cathy</creator><creator>Javaher, Poupak</creator><creator>Scallet, Helena Fabbri</creator><creator>Mohr, Julia</creator><creator>Biskup, Saskia</creator><creator>Herkert, Johanna C.</creator><creator>Pfundt, Rolph</creator><creator>Mehta, Lakshmi</creator><creator>Rekab, Aisha</creator><creator>Elloumi, Houda Zghal</creator><creator>Sanyoura, May</creator><creator>Maciel-Guerra, Andréa Trevas</creator><creator>Gil-da-Silva-Lopes, Vera Lúcia</creator><creator>dos Santos, Ana Mondadori</creator><creator>Vieira, Társis Paiva</creator><general>Springer International Publishing</general><general>Nature Publishing Group</general><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>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0461-9102</orcidid><orcidid>https://orcid.org/0000-0002-7280-6260</orcidid><orcidid>https://orcid.org/0000-0002-9796-3342</orcidid><orcidid>https://orcid.org/0000-0003-4027-8341</orcidid></search><sort><creationdate>202412</creationdate><title>Novel variants in the SOX11 gene: clinical description of seven new patients</title><author>Schincariol-Manhe, Beatriz ; Campagnolo, Érica ; Spineli-Silva, Samira ; de Leeuw, Nicole ; Correia-Costa, Gabriela Roldão ; Pessoa, André ; de Souza, Carolina Fischinger Moura ; Stevens, Cathy ; Javaher, Poupak ; Scallet, Helena Fabbri ; Mohr, Julia ; Biskup, Saskia ; Herkert, Johanna C. ; Pfundt, Rolph ; Mehta, Lakshmi ; Rekab, Aisha ; Elloumi, Houda Zghal ; Sanyoura, May ; Maciel-Guerra, Andréa Trevas ; Gil-da-Silva-Lopes, Vera Lúcia ; dos Santos, Ana Mondadori ; Vieira, Társis Paiva</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-bc6ab662ce90cb0d3ba6da15fac0d633a04e567d0e55d627208d3997b20bd0383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>45/23</topic><topic>45/61</topic><topic>631/208/1516/1510</topic><topic>692/308</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Amenorrhea</topic><topic>Attention deficit hyperactivity disorder</topic><topic>Autism</topic><topic>Bioinformatics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brief Communication</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Collaboration</topic><topic>Cryptorchidism</topic><topic>Cytogenetics</topic><topic>Female</topic><topic>Gene deletion</topic><topic>Gene Expression</topic><topic>Genes</topic><topic>Genetic engineering</topic><topic>Genetic testing</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Hypogonadism</topic><topic>Hypogonadism - genetics</topic><topic>Hypogonadism - pathology</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - pathology</topic><topic>Laboratories</topic><topic>Male</topic><topic>Microcephaly</topic><topic>Microcephaly - genetics</topic><topic>Microcephaly - pathology</topic><topic>Microencephaly</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Neurodevelopmental disorders</topic><topic>Ovaries</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Proteins</topic><topic>SOXC Transcription Factors - genetics</topic><topic>Transcription factors</topic><topic>Uterus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schincariol-Manhe, Beatriz</creatorcontrib><creatorcontrib>Campagnolo, Érica</creatorcontrib><creatorcontrib>Spineli-Silva, Samira</creatorcontrib><creatorcontrib>de Leeuw, Nicole</creatorcontrib><creatorcontrib>Correia-Costa, Gabriela Roldão</creatorcontrib><creatorcontrib>Pessoa, André</creatorcontrib><creatorcontrib>de Souza, Carolina Fischinger Moura</creatorcontrib><creatorcontrib>Stevens, Cathy</creatorcontrib><creatorcontrib>Javaher, Poupak</creatorcontrib><creatorcontrib>Scallet, Helena Fabbri</creatorcontrib><creatorcontrib>Mohr, Julia</creatorcontrib><creatorcontrib>Biskup, Saskia</creatorcontrib><creatorcontrib>Herkert, Johanna C.</creatorcontrib><creatorcontrib>Pfundt, Rolph</creatorcontrib><creatorcontrib>Mehta, Lakshmi</creatorcontrib><creatorcontrib>Rekab, Aisha</creatorcontrib><creatorcontrib>Elloumi, Houda Zghal</creatorcontrib><creatorcontrib>Sanyoura, May</creatorcontrib><creatorcontrib>Maciel-Guerra, Andréa Trevas</creatorcontrib><creatorcontrib>Gil-da-Silva-Lopes, Vera Lúcia</creatorcontrib><creatorcontrib>dos Santos, Ana Mondadori</creatorcontrib><creatorcontrib>Vieira, Társis Paiva</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schincariol-Manhe, Beatriz</au><au>Campagnolo, Érica</au><au>Spineli-Silva, Samira</au><au>de Leeuw, Nicole</au><au>Correia-Costa, Gabriela Roldão</au><au>Pessoa, André</au><au>de Souza, Carolina Fischinger Moura</au><au>Stevens, Cathy</au><au>Javaher, Poupak</au><au>Scallet, Helena Fabbri</au><au>Mohr, Julia</au><au>Biskup, Saskia</au><au>Herkert, Johanna C.</au><au>Pfundt, Rolph</au><au>Mehta, Lakshmi</au><au>Rekab, Aisha</au><au>Elloumi, Houda Zghal</au><au>Sanyoura, May</au><au>Maciel-Guerra, Andréa Trevas</au><au>Gil-da-Silva-Lopes, Vera Lúcia</au><au>dos Santos, Ana Mondadori</au><au>Vieira, Társis Paiva</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel variants in the SOX11 gene: clinical description of seven new patients</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2024-12</date><risdate>2024</risdate><volume>32</volume><issue>12</issue><spage>1640</spage><epage>1646</epage><pages>1640-1646</pages><issn>1018-4813</issn><issn>1476-5438</issn><eissn>1476-5438</eissn><abstract>Pathogenic
SOX11
variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo
SOX11
variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with
SOX11
variants and supports the role of this gene in HH.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>39333428</pmid><doi>10.1038/s41431-024-01695-8</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-0461-9102</orcidid><orcidid>https://orcid.org/0000-0002-7280-6260</orcidid><orcidid>https://orcid.org/0000-0002-9796-3342</orcidid><orcidid>https://orcid.org/0000-0003-4027-8341</orcidid></addata></record> |
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| subjects | 45/23 45/61 631/208/1516/1510 692/308 Adolescent Adult Amenorrhea Attention deficit hyperactivity disorder Autism Bioinformatics Biomedical and Life Sciences Biomedicine Brief Communication Child Child, Preschool Collaboration Cryptorchidism Cytogenetics Female Gene deletion Gene Expression Genes Genetic engineering Genetic testing Human Genetics Humans Hypogonadism Hypogonadism - genetics Hypogonadism - pathology Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - pathology Laboratories Male Microcephaly Microcephaly - genetics Microcephaly - pathology Microencephaly Mutation Mutation, Missense Neurodevelopmental disorders Ovaries Patients Phenotype Proteins SOXC Transcription Factors - genetics Transcription factors Uterus |
| title | Novel variants in the SOX11 gene: clinical description of seven new patients |
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