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

1546-1718

10.1038/ng.3765 doi


Animals
Cell Line
Child, Preschool
Choanal Atresia--genetics
Chromosomal Proteins, Non-Histone--genetics
Epigenesis, Genetic--genetics
Female
Genetic Predisposition to Disease--genetics
Humans
Male
Mice
Mice, Inbred C57BL
Microphthalmos--genetics
Muscular Dystrophy, Facioscapulohumeral--genetics
Mutation, Missense--genetics
Nose--abnormalities
Xenopus laevis--genetics