De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson, Michael A

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. [electronic resource] - American journal of human genetics Feb 2012 - 290-4 p. digital

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

1537-6605

10.1016/j.ajhg.2011.11.024 doi


Acetylation
Alleles
Animals
Exome
Exons
Female
Histone Acetyltransferases--genetics
Histones--metabolism
Humans
Intellectual Disability--enzymology
Male
Mice
Musculoskeletal Abnormalities--enzymology
Mutation
Sequence Analysis, DNA--methods
Urogenital Abnormalities--enzymology