Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation

Autor:	Sheau Chiou Chao, Jeng Hsien Lin, Julia Yu-Yun Lee, Hung Chien Lin
Jazyk:	angličtina
Rok vydání:	2010
Předmět:	Atrichia with papular lesions Pathology medicine.medical_specialty Mutation integumentary system business.industry Taiwanese DNA-binding domain Dermatology Gene mutation lcsh:RL1-803 medicine.disease_cause medicine.disease Phenotype Hairless HR gene Hair loss lcsh:Dermatology Medicine business Gene
Zdroj:	Dermatologica Sinica, Vol 28, Iss 1, Pp 40-43 (2010)
ISSN:	1027-8117
Popis:	Atrichia with papular lesions is a rare form of hair loss with an autosomal recessive mode of inheritance characterized by the absence of normal hair follicles and formation of intradermal cystic structures. Mutations in the hairless (HR) gene in both mice and human have been implicated in the development of this phenotype. HR codes for a putative transcription factor containing a single zinc-finger DNA binding domain, with restricted expression in the brain and the skin. Here, we report the first case of atrichia with papular lesions in a Taiwanese family with no detectable mutation in HR.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646e37ea2fefa8ee616fee994990afca http://www.sciencedirect.com/science/article/pii/S1027811710600079 Zobrazit plný text záznamu