Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of investigative dermatology - 1 Jun 2006

Zlotogorski Abraham, Marek Dina, Horev Liran, Abu Almogit, Ben-Amitai Dan, Gerad Liora, Ingber Arieh, Frydman Moshe, Reznik-Wolf Haike, Vardy Daniel A, Pras Elon

Abstract excerpt

Monilethrix is a structural defect of the hair shaft usually inherited in an autosomal dominant fashion and caused by mutations in the hHb1, hHb3, and hHb6 keratin genes. Autosomal recessive inheritance in this disease has been sporadically reported. We encountered 12 Jewish families from Iraq, Iran, and Morocco with microscopic findings of monilethrix, but with no evidence of vertical transmission. Since no...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 18
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Diseases

Share to Haplotypes

Share to Hypotrichosis

Share to Infectious Disease Transmission, Vertical

Share to Pedigree

Source

Identifiers

PMID: 16575393
DOI: 10.1038/sj.jid.5700251

Genes

DSG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.PMID 16575393Read ↗

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.Semantic proximity Read ↗

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

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

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.Semantic proximity Read ↗

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.Semantic proximity Read ↗

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

[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].Semantic proximity Read ↗

[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].Semantic proximity Read ↗

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.