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Article

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.

Human mutation - 1 Jul 2011

Zhou Cheng, Zang Dongjie, Jin Yan, Wu Huafeng, Liu Zhengyi, Du Juan, Zhang Jianzhong

Abstract excerpt

Hereditary hypotrichosis simplex (HHS) is a form of nonsyndromic inherited hair loss disorders without characteristic hair shaft changes, which has marked genetic and clinical heterogeneity. After mapping the locus to 13q12.12-12.3 in a Chinese family with a generalized variant of autosomal dominant HHS (ADHHS), exome sequencing was performed in an affected individual. The cause of the disease in this family was...

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Source

Identifiers

PMID: 21412954
DOI: 10.1002/humu.21503

Genes

RPL21

Variants

Provenance

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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