Condition: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
rs281875331
in
ACTB
gene and
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
PMID 25052316
2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 22366783
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
PMID 10411937
1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.