Article
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2009
Celep F, Uzumcu A, Sonmez F M, Uyguner O, Balci Y Isik, Bahadir S, Karaguzel A
Abstract excerpt
Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. In our study, Monilethrix was diagnosed on the basis of clinical...
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