Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromos...

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Détails bibliographiques
Auteurs principaux: Raykova, Doroteya, Klar, Joakim, Azhar, Aysha, Khan, Tahir Naeem, Malik, Naveed Altaf, Iqbal, Muhammad, Tariq, Muhammad, Baig, Shahid Mahmood, Dahl, Niklas
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3979697/
https://ncbi.nlm.nih.gov/pubmed/24714551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093607
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