Article
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
Clinical and experimental dermatology - 1 Jan 2015
Ullah A, Raza S I, Ali R H, Naveed A K, Jan A, Rizvi S D A, Satti R, Ahmad W
Abstract excerpt
BACKGROUND: Autosomal recessive hypotrichosis is a rare human hereditary disorder presenting as sparse scalp hair or as woolly hair occurring on various parts of the body. Various forms of isolated hypotrichosis have been reported to date. Mutations in at least 11 genes have been reported to cause hypotrichosis. AIMS: To investigate the clinical and genetic basis of autosomal recessive hypotrichosis in two...
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