Clayton-Smith, Jill

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. [electronic resource] - American journal of human genetics Nov 2011 - 675-81 p. digital

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

1537-6605

10.1016/j.ajhg.2011.10.008 doi


Abnormalities, Multiple--genetics
Adult
Animals
Blepharophimosis--genetics
Child
Chromatin--metabolism
Chromosomes, Human, Pair 10--genetics
Codon, Nonsense--genetics
Congenital Hypothyroidism--genetics
Exome--genetics
Facies
Female
Gene Expression Regulation, Developmental
Heart Defects, Congenital
Histone Acetyltransferases--deficiency
Humans
INDEL Mutation--genetics
Intellectual Disability--genetics
Joint Instability
Male
Metabolism, Inborn Errors--genetics
Mice
Mice, Transgenic
Microarray Analysis
Polymorphism, Single Nucleotide--genetics