Tham, Emma

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. [electronic resource] - American journal of human genetics Mar 2015 - 507-13 p. digital

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

1537-6605

10.1016/j.ajhg.2015.01.016 doi


Adolescent
Child
Child, Preschool
Comparative Genomic Hybridization
Exome
Female
Gene Deletion
Genetic Loci
Heterozygote
Histone Acetyltransferases--genetics
Humans
Infant
Intellectual Disability--genetics
Male
Microcephaly--genetics
Mutation
Pedigree
Phenotype