首页> American journal of medical genetics. Part A> Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

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第一作者： Benjamin,Dudoignon

第一单位： AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France.

作者： Benjamin,Dudoignon ^[1] ; Celine,Huber ^[2] ; Caroline,Michot ^[3] ; Federico,Di Rocco ^[4] ; Muriel,Girard ^[5] ; Stanislas,Lyonnet ^[1] ; Marlène,Rio ^[1] ; Smail Hadj,Rabia ^[6] ; Valérie Cormier,Daire ^[3] ; Geneviève,Baujat ^[3]

作者单位： AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France. ^[1] INSERM, UMR1163, Iimagine Institute, Paris, France.;AP-HP, Reference Center for Skeletal Dysplasia, Paris, France. ^[2] AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France.;INSERM, UMR1163, Iimagine Institute, Paris, France.;AP-HP, Reference Center for Skeletal Dysplasia, Paris, France. ^[3] Hopital Femme Mere Enfant, Bron, France. ^[4] AP-HP, Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis, INSERM U1151/CNRS UMR 8253, Institut Necker-Enfants malades (INEM), Assistance Publique Hopitaux de Paris, Necker-Enfants malades Hospital, Paris, France. ^[5] AP-HP, Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants malades University Hospital, Paris, France. ^[6]

关键词 Adams-Oliver syndrome genotype/phenotype correlations systematic assessment whole exome sequencing