Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.