De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen, Alexander

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. [electronic resource] - Nature genetics Jun 2011 - 729-31 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.868 doi


Codon, Nonsense--genetics
Craniosynostoses--etiology
Face--abnormalities
Humans
Intellectual Disability--etiology
Polymorphism, Single Nucleotide--genetics
Repressor Proteins--genetics