OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C,Thomas S,Sinico M,Aral B,Burglen L,Gigot N,Dollfus H,Rossignol S,Raynaud M,Philippe C,Badens C,Touraine R,Gomes C,Franco B,Lopez E,Elkhartoufi N,Faivre L,Munnich A,Boddaert N,Van Maldergem L,Encha-Razavi F,Lyonnet S,Vekemans M,Escudier E,Attié-Bitach T
Source :
Clin Genet
2012 Oct 4
Pmid / DOI:
23036093