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Article

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

The journal of gene medicine - 1 May 2020

Ali Ghazanfar, Awan Naheed Bashir, Sadia, Khawaja Abdul Waheed, Foo Jia Nee, Khor Chiea Chuen, Chang Chu-Hua, Chew Elaine GuoYan, Kiani Farhat Rafique, Jelani Musharraf

Abstract excerpt

BACKGROUND: Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance. This form of hair loss is mainly associated with mutations in the human hairless (HR) gene located at chromosome 8p21.3. An additional unique feature atrichia with papular lesions (APL) comprises keratin-filled cysts known as papules. The present study aimed to uncover the underlying...

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PMID: 32020700
DOI: 10.1002/jgm.3167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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