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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-three-genes-encoding-proteins-involved-in-hair-shaft-formation/

## Facts

| Field | Value |
| --- | --- |
| Author Names | F. Buket Basmanav,Laura Cau,Aylar Tafazzoli,Marie‐Claire Méchin,Sabrina Wolf,Maria Teresa Romano,Frederic Valentin,Henning Wiegmann,Anne Huchenq,Rima Kandil,Natalie Garcia Bartels,Arzu Kılıç,Susannah George,Damian J. Ralser,Stefan Bergner,David Ferguson,Ana‐Maria Oprişoreanu,Maria Wehner,Hölger Thiele,Janine Altmüller,Peter Nürnberg,Daniel Swan,Darren T. Houniet,Aline Büchner,Lisa Weibel,Nicola Wagner,Ramón Grimalt,Anette Bygum,Guy Serre,Ulrike Blume‐Peytavi,Eli Sprecher,Susanne Schoch,Vinzenz Oji,Henning Hamm,Paul Farrant,Michel Simon,Regina C. Betz |
| Citations | 147 |
| DOI | 10.1016/j.ajhg.2016.10.004 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929716304402/pdf |
| OpenAlex ID | https://openalex.org/W2553427677 |
| PMID | 27866708 |
| Type | article |
| Year | 2016 |

## Paper authors

- [Susannah George](https://scholariq.org/researchers/susannah-george/)

## Paper primary topic

- [Hair Growth and Disorders](https://scholariq.org/topics/hair-growth-and-disorders/)

## Paper topics

- [Hair Growth and Disorders](https://scholariq.org/topics/hair-growth-and-disorders/)
- [Skin and Cellular Biology Research](https://scholariq.org/topics/skin-and-cellular-biology-research/)
- [Blood properties and coagulation](https://scholariq.org/topics/blood-properties-and-coagulation/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.