Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

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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Autores principales: Doroteya Raykova, Joakim Klar, Aysha Azhar, Tahir Naeem Khan, Naveed Altaf Malik, Muhammad Iqbal, Muhammad Tariq, Shahid Mahmood Baig, Niklas Dahl
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/be1adbe3ffec4a89b125b16f67381000
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