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

• Κύριοι συγγραφείς: Faisel Abu-Duhier (Συγγραφέας), Vivetha Pooranachandran (Συγγραφέας), Andrew J. G. McDonagh (Συγγραφέας), Andrew G. Messenger (Συγγραφέας), Johnathan Cooper-Knock (Συγγραφέας), Youssef Bakri (Συγγραφέας), Paul R. Heath (Συγγραφέας), Rachid Tazi-Ahnini (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Hindawi Limited, 2018-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...