Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
Wajid
Muhammad
M
Bazzi
Hisham
H
Rockey
Jonathan
J
Lubetkin
Jillian
J
Zlotogorski
Abraham
A
Christiano
Angela M
AM
D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D051182:Desmogleins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype
C473409:DSG4 protein, human; D051182:Desmogleins