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Article

Evidence for genetic heterogeneity in monilethrix.

The Journal of investigative dermatology - 1 Dec 1996

Richard G, Itin P, Lin J P, Bon A, Bale S J

Abstract excerpt

Monilethrix is a rare inherited defect of the hair shaft resulting in hair fragility and dystrophic alopecia. In contrast to recent reports mapping monilethrix to the type II epithelial and trichocyte keratin gene cluster on 12q13, we strongly excluded these candidate genes in another family with...

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Identifiers

PMID: 8941666
DOI: 10.1111/1523-1747.ep12330568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8941666-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for genetic heterogeneity in monilethrix.PMID 8941666Read ↗

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.Semantic proximity Read ↗

Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity.Semantic proximity Read ↗

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese familiesSemantic proximity Read ↗

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.Semantic proximity Read ↗

Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.Semantic proximity Read ↗

A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.Semantic proximity Read ↗

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.Semantic proximity Read ↗

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.Semantic proximity Read ↗

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.Semantic proximity Read ↗

More than one gene involved in monilethrix: intracellular but also extracellular players.Semantic proximity Read ↗

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.Semantic proximity Read ↗

De novo mutations in monilethrix.Semantic proximity Read ↗

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