Collagenopathy with a phenotype resembling silver-russell syndrome phenotype
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, characteristic triangular face, body asymmetry, and mild facial dysmorphisms [Wakeling, 2011]. Maternal uniparental disomy of ch...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2013-10, Vol.161A (10), p.2681-2684 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 161A |
| creator | Cianci, Paola Paterlini, Giuseppe Tagliabue, Paolo Verderio, Maria Vergani, Patrizia Bianchi, Maria Luisa Giussani, Carlo Kullmann, Gaia Mazzoleni, Fabio Bozzetti, Alberto Selicorni, Angelo |
| description | Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, characteristic triangular face, body asymmetry, and mild facial dysmorphisms [Wakeling, 2011]. Maternal uniparental disomy of chromosome 7 (UPD7) is reported in 10% of SRS patients, and hypomethylation of the IGF2/H19 imprinting center on chromosome 11p15 in 30-60% of patients [Bruce et al., 2009]. |
| doi_str_mv | 10.1002/ajmg.a.36093 |
| format | Article |
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Maternal uniparental disomy of chromosome 7 (UPD7) is reported in 10% of SRS patients, and hypomethylation of the IGF2/H19 imprinting center on chromosome 11p15 in 30-60% of patients [Bruce et al., 2009].</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36093</identifier><identifier>PMID: 23918677</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Bone and Bones - diagnostic imaging ; Bone and Bones - pathology ; Facies ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Phenotype ; Pregnancy ; Radiography ; Silver-Russell Syndrome - diagnosis ; Ultrasonography, Prenatal</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, characteristic triangular face, body asymmetry, and mild facial dysmorphisms [Wakeling, 2011]. Maternal uniparental disomy of chromosome 7 (UPD7) is reported in 10% of SRS patients, and hypomethylation of the IGF2/H19 imprinting center on chromosome 11p15 in 30-60% of patients [Bruce et al., 2009].</description><subject>Adult</subject><subject>Bone and Bones - diagnostic imaging</subject><subject>Bone and Bones - pathology</subject><subject>Facies</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Magnetic Resonance Imaging</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Radiography</subject><subject>Silver-Russell Syndrome - diagnosis</subject><subject>Ultrasonography, Prenatal</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtP20AQxlcVqDzaW8_IUi8ccDr78O76GKKSggK9tOpxtbYniYNf7Nqk_u-7EAhSD5xmNPP7vhl9hHyhMKEA7Jvd1KuJnXAJKf9AjmmSsFhozg_2PUuOyIn3GwAOiZIfyRHjKdVSqWOymLVVZVfYtJ3t12O0Lft1ZKNuHSb92GHk0GOdVWWzinxZPaKL3eA9VlXkx6ZwbY1v8CdyuLSVx88v9ZT8vvr-a_YjXvycX8-mizgXwHisdZZCvkSe5okuQOSKJSgUKMgyrTKODKVNcxG2SQYZlUKqIk0LsDkTTCM_Jec73861DwP63tSlz8NPtsF28IaKoGRaKBrQr_-hm3ZwTfguUFIDpJLzQF3sqNy13jtcms6VtXWjoWCeUjZPKRtrnlMO-NmL6ZDVWOzh11gDIHbAtqxwfNfMTG9u59NX33gnK32Pf_cy6-6NVFwl5s_d3Fxxtbikdyxc-wfvrpfW</recordid><startdate>201310</startdate><enddate>201310</enddate><creator>Cianci, Paola</creator><creator>Paterlini, Giuseppe</creator><creator>Tagliabue, Paolo</creator><creator>Verderio, Maria</creator><creator>Vergani, Patrizia</creator><creator>Bianchi, Maria Luisa</creator><creator>Giussani, Carlo</creator><creator>Kullmann, Gaia</creator><creator>Mazzoleni, Fabio</creator><creator>Bozzetti, Alberto</creator><creator>Selicorni, Angelo</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201310</creationdate><title>Collagenopathy with a phenotype resembling silver-russell syndrome phenotype</title><author>Cianci, Paola ; Paterlini, Giuseppe ; Tagliabue, Paolo ; Verderio, Maria ; Vergani, Patrizia ; Bianchi, Maria Luisa ; Giussani, Carlo ; Kullmann, Gaia ; Mazzoleni, Fabio ; Bozzetti, Alberto ; Selicorni, Angelo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4023-88b90cfe39c58d04c725e47070bb87b3e2e6a9c4c585b0b16467d99d0ac2428e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Bone and Bones - diagnostic imaging</topic><topic>Bone and Bones - pathology</topic><topic>Facies</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Magnetic Resonance Imaging</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Radiography</topic><topic>Silver-Russell Syndrome - diagnosis</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cianci, Paola</creatorcontrib><creatorcontrib>Paterlini, Giuseppe</creatorcontrib><creatorcontrib>Tagliabue, Paolo</creatorcontrib><creatorcontrib>Verderio, Maria</creatorcontrib><creatorcontrib>Vergani, Patrizia</creatorcontrib><creatorcontrib>Bianchi, Maria Luisa</creatorcontrib><creatorcontrib>Giussani, Carlo</creatorcontrib><creatorcontrib>Kullmann, Gaia</creatorcontrib><creatorcontrib>Mazzoleni, Fabio</creatorcontrib><creatorcontrib>Bozzetti, Alberto</creatorcontrib><creatorcontrib>Selicorni, Angelo</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</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><jtitle>American journal of medical genetics. 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| subjects | Adult Bone and Bones - diagnostic imaging Bone and Bones - pathology Facies Female Humans Infant, Newborn Magnetic Resonance Imaging Phenotype Pregnancy Radiography Silver-Russell Syndrome - diagnosis Ultrasonography, Prenatal |
| title | Collagenopathy with a phenotype resembling silver-russell syndrome phenotype |
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