Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

We report a family from Tabuk, Saudi Arabia, previously screened for Acrodermatitis Enteropathica (AE), in which two siblings presented with typical features of acral dermatitis and a pustular eruption but differing severity. Affected members of our family carry a rare genetic variant, p.Gly512Trp i...

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Bibliografiske detaljer
Udgivet i:Dermatol Res Pract
Main Authors: Abu-Duhier, Faisel, Pooranachandran, Vivetha, McDonagh, Andrew J. G., Messenger, Andrew G., Cooper-Knock, Johnathan, Bakri, Youssef, Heath, Paul R., Tazi-Ahnini, Rachid
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6106946/
https://ncbi.nlm.nih.gov/pubmed/30174688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/1284568
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