The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau, Philippe M

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. [electronic resource] - Human mutation Nov 2012 - 1520-5 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

1098-1004

10.1002/humu.22141 doi


Abnormalities, Multiple--enzymology
Base Sequence
Blepharophimosis--enzymology
Blepharoptosis--enzymology
Craniofacial Abnormalities--enzymology
DNA--genetics
Databases, Nucleic Acid
Female
Genetic Association Studies
Haploinsufficiency
Heart Defects, Congenital--enzymology
Histone Acetyltransferases--chemistry
Humans
Intellectual Disability--enzymology
Kidney--abnormalities
Male
Molecular Sequence Data
Mutation
Patella--abnormalities
Psychomotor Disorders--enzymology
Scrotum--abnormalities
Sequence Deletion
Urogenital Abnormalities--enzymology