Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.
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| Title: | Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. |
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| Authors: | Sonmez FM; Department of Child Neurology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Uctepe E; Department of Medical Genetics, Health Sciences University, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Gunduz M; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey; Department of Otolaryngology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Gormez Z; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Erpolat S; Department of Dermatology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Oznur M; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Sagiroglu MS; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Demirci H; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Gunduz E; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey. |
| Source: | Intractable & rare diseases research [Intractable Rare Dis Res] 2016 Aug; Vol. 5 (3), pp. 222-6. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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