Kim P. van der Donk

1. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
   2007/12/11 by Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk +8 · 86 citations
   Medicine · #Congenital Ear and Nasal Anomalies #Tracheal and airway disorders #Otitis Media and Relapsing Polychondritis #Missense mutation #Germline mosaicism #CHARGE syndrome #Genetics #Germline mutation #Mutation #Exon #Germline #Biology #Phenotype #Somatic cell #Gene