Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Ange-Line BruelJulien ThevenonF HuetN Jean-MarcaisS OdentC DubourgD LehalleF Tran Mau-ThemC PhilippeS MouttonN HoucinatS GayL GuibaudY DuffourdJ-B RivièreL FaivreC Thauvin-RobinetPublished in: Clinical genetics (2018)