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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Detalles Bibliográficos
Autores principales: Raykova, Doroteya, Klar, Joakim, Azhar, Aysha, Khan, Tahir Naeem, Malik, Naveed Altaf, Iqbal, Muhammad, Tariq, Muhammad, Baig, Shahid Mahmood, Dahl, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979697/
https://www.ncbi.nlm.nih.gov/pubmed/24714551
http://dx.doi.org/10.1371/journal.pone.0093607

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