Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
January 2003
in “
Dermatology
”
TLDR The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
The study described a Japanese family with monilethrix, an autosomal dominant hair disorder characterized by a beaded appearance of the hair. This condition was linked to the E413K mutation in the hHb6 gene, a mutation previously identified in 26 families. The research found no clear genotype/phenotype correlation in this family or in previously reported cases.
