Gordon, Christopher T De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. [electronic resource] - Nature genetics Feb 2017 - 249-255 p. digital Publication Type: Journal Article ISSN: 1546-1718 Standard No.: 10.1038/ng.3765 doi Subjects--Topical Terms: AnimalsCell LineChild, PreschoolChoanal Atresia--geneticsChromosomal Proteins, Non-Histone--geneticsEpigenesis, Genetic--geneticsFemaleGenetic Predisposition to Disease--geneticsHumansMaleMiceMice, Inbred C57BLMicrophthalmos--geneticsMuscular Dystrophy, Facioscapulohumeral--geneticsMutation, Missense--geneticsNose--abnormalitiesXenopus laevis--genetics