These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: De novo mutations in monilethrix.
    Author: Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A.
    Journal: Exp Dermatol; 2003 Dec; 12(6):882-5. PubMed ID: 14714571.
    Abstract:
    Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
    [Abstract] [Full Text] [Related] [New Search]