Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
We suspect that this variant is responsible for the poorly anchored and finely curled hair in the mother and daughter, which leads to a proposed diagnosis of autosomal dominant wooly hair, as well as loose anagen hair syndrome. We thus expand the variant spectrum of <i>KRT71</i> and its associated phenotypes to include both disorders.
Authors
- Kelly N. Messingham (ORCID: https://orcid.org/0000-0003-4630-0722)
- Elizabeth Phillippi (ORCID: https://orcid.org/0000-0003-3270-7564)
- Marcelo Maia Caixeta de Melo (ORCID: https://orcid.org/0000-0002-3325-247X)
- Hatem El‐Shanti (ORCID: https://orcid.org/0000-0001-6230-8316)
Institutions
- University of Iowa (US)
Publication Details
- Journal
- Genes
- Published
- 2025-04-17
- DOI
- https://doi.org/10.3390/genes16040459
- Citations
- 2
- Primary Topic
- Hair Growth and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.67
Funders
- Roy J. and Lucille A. Carver College of Medicine, University of Iowa