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Article

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.

The Journal of dermatology - 1 Dec 2020

Lv Hongli, Li Ming, Cheng Ruhong

Abstract excerpt

Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare form of congenital alopecia, which can be caused by mutations in lipase H (LIPH), lysophosphatidic acid receptor 6 (LPAR6/P2RY5) or keratin 25 (KRT25) genes. We present a 32-year-old woman with typical clinical features of ARWH. Hair microscopy was performed to observe differences between the patient's hair and a normal sample. Next-generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32901930
DOI: 10.1111/1346-8138.15581

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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