Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

BACKGROUND: Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. METHODS: The present study investigated clinical and molecula...

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Detalhes bibliográficos
Publicado no:Int J Dermatol
Main Authors: Ullah, Rahim, Ansar, Muhammad, Durrani, Zaka Ullah, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Muhammad, Dost, Ali, Mahboob, Zia, Muhammad, Ayub, Muhammad, Khan, Suliman, Smith, Josh D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Leal, Suzanne M., Ahmad, Wasim
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5090260/
https://ncbi.nlm.nih.gov/pubmed/26578203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ijd.12950
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