Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.

Autor:	Piquer‐García, Jennifer, Torres‐Navarro, Ignacio, Martínez‐Castellano, Francisco, Évole‐Buselli, Montserrat
Předmět:	DIZYGOTIC twins GENETIC mutation HAIR CAUCASIAN race HAIR growth PALMOPLANTAR keratoderma ALOPECIA areata
Zdroj:	International Journal of Dermatology; Feb2021, Vol. 60 Issue 2, pe68-e70, 3p
Abstrakt:	Dear Editor, Woolly hair is a rare disorder of the scalp hair shaft characterized by tightly curled hair in individuals of Caucasian and Asian origin. Their hairs are tightly curled, short, hypopigmented, and sparse gl GLO:DIF/01feb21:ijd15207-fig-0002.jpg PHOTO (COLOR): 2 Under light microscopy, hairs showed decreased diameter, with no specific hair shaft abnormalities (a). Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: case report and published work review. [Extracted from the article]
Databáze:	Complementary Index
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