Hung-Chun Yu Elizabeth A Geiger Livija Medne Elaine H Zackai Tamim H Shaikh
10.1002/ajmg.a.36379
Am J Med Genet A
2014 Apr;164A(4):950-7.
bpes kat6b blepharophimosis epicanthus inversus ptosis whole exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24458743/
Blepharophimosis / genetics Codon, Nonsense Frameshift Mutation Histone Acetyltransferases / genetics Skin Abnormalities / genetics
Blepharophimosis / genetics Codon, Nonsense Frameshift Mutation Histone Acetyltransferases / genetics Skin Abnormalities / genetics Case Reports Research Support, N.I.H., Extramural Forkhead Box Protein L2 Forkhead Transcription Factors / genetics Humans Infant Male Phenotype Urogenital Abnormalities Codon, Nonsense FOXL2 protein, human Forkhead Box Protein L2 Forkhead Transcription Factors Histone Acetyltransferases KAT6B protein, human Blepharophimosis, Ptosis, and Epicanthus Inversus
PMC4414115
24458743
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B
2014