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

• Main Authors: Faisel Abu-Duhier (Author), Vivetha Pooranachandran (Author), Andrew J. G. McDonagh (Author), Andrew G. Messenger (Author), Johnathan Cooper-Knock (Author), Youssef Bakri (Author), Paul R. Heath (Author), Rachid Tazi-Ahnini (Author)
• Format: Book
• Published: Hindawi Limited, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...