A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signalin...

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Vydáno v:Int J Mol Cell Med
Hlavní autoři: Torkamandi, Shahram, Gholami, Milad, Mohammadi-asl, Javad, Rezaie, Somaye, Zaimy, Mohammad Ali, Omrani, Mir Davood
Médium: Artigo
Jazyk:Inglês
Vydáno: Babol University of Medical Sciences 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5353988/
https://ncbi.nlm.nih.gov/pubmed/28357203
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