Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

doi:10.1016/j.ajhg.2016.10.004

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Article

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

American journal of human genetics - 1 Dec 2016

Ü Basmanav F Buket, Cau Laura, Tafazzoli Aylar, Méchin Marie-Claire, Wolf Sabrina, Romano Maria Teresa, Valentin Frederic, Wiegmann Henning, Huchenq Anne, Kandil Rima, Garcia Bartels Natalie, Kilic Arzu, George Susannah, Ralser Damian J, Bergner Stefan, Ferguson David J P, Oprisoreanu Ana-Maria, Wehner Maria, Thiele Holger, Altmüller Janine, Nürnberg Peter, Swan Daniel, Houniet Darren, Büchner Aline, Weibel Lisa, Wagner Nicola, Grimalt Ramon, Bygum Anette, Serre Guy, Blume-Peytavi Ulrike, Sprecher Eli, Schoch Susanne, Oji Vinzenz, Hamm Henning, Farrant Paul, Simon Michel, Betz Regina C

Abstract excerpt

Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well...

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Identifiers

PMID: 27866708
DOI: 10.1016/j.ajhg.2016.10.004
PMCID: PMC5142115

Genes

PADI3
TCHH
TGM3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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