首页> American journal of medical genetics. Part A> Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

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第一作者： Richard,Coulie

第一单位： Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

作者： Richard,Coulie ^[1] ; Dmitriy M,Niyazov ^[2] ; Michael J,Gambello ^[3] ; Elodie,Fastré ^[1] ; Pascal,Brouillard ^[1] ; Miikka,Vikkula ^[4]

作者单位： Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium. ^[1] Section of Medical Genetics, Ochsner Health System and University of Queensland, New Orleans, Louisiana, USA. ^[2] Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA. ^[3] Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.;Walloon Excellence in Lifesciences and Biotechnology (WELBIO), University of Louvain, Brussels, Belgium. ^[4]

关键词 HLTRS HLTS genetic lymphangiogenesis phenotype transcription factor