Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

作者:Bruel A L; Thevenon J; Huet F; Jean Marcais N; Odent S; Dubourg C; Lehalle D; Mau Them F Tran; Philippe C; Moutton S; Houcinat N; Gay S; Guibaud L; Duffourd Y; Riviere J B; Faivre L; Thauvin Robinet C*
来源:Clinical Genetics, 2018, 94(1): 182-184.
DOI:10.1111/cge.13211