Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Fiche publication
Date publication
novembre 2019
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C
Lien Pubmed
Mots clés
Abnormalities, Multiple, DNA-Binding Proteins, genetics, Face, abnormalities, Hand Deformities, Congenital, Humans, Intellectual Disability, Micrognathism, Mutation, Neck, abnormalities, Transcription Factors, genetics
Référence
Genet. Med.. 2019 11;21(11):2654-2655