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Article

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

The Journal of investigative dermatology - 1 Dec 1999

Pearce E G, Smith S K, Lanigan S W, Bowden P E

Abstract excerpt

Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoding region in two hair-specific keratins (hHb1 and hHb6) have been identified. We have now investigated two unrelated monilethrix patients and...

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Source

Identifiers

PMID: 10594761
DOI: 10.1046/j.1523-1747.1999.00777.x

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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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Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.PMID 10594761Read ↗

De novo mutations in monilethrix.Semantic proximity Read ↗

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