Article
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
The Journal of clinical endocrinology and metabolism - 1 May 2018
Zou Minjing, Alzahrani Ali S, Al-Odaib Ali, Alqahtani Mohammad A, Babiker Omer, Al-Rijjal Roua A, BinEssa Huda A, Kattan Walaa E, Al-Enezi Anwar F, Al Qarni Ali, Al-Faham Manar S A, Baitei Essa Y, Alsagheir Afaf, Meyer Brian F, Shi Yufei
Abstract excerpt
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective: To identify the mutation spectrum of CH-causing genes. Methods: Fifty-five patients from 47 families...
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