Article
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
The Journal of clinical endocrinology and metabolism - 1 Dec 2016
Nicholas Adeline K, Serra Eva G, Cangul Hakan, Alyaarubi Saif, Ullah Irfan, Schoenmakers Erik, Deeb Asma, Habeb Abdelhadi M, Almaghamsi Mohammad, Peters Catherine, Nathwani Nisha, Aycan Zehra, Saglam Halil, Bober Ece, Dattani Mehul, Shenoy Savitha, Murray Philip G, Babiker Amir, Willemsen Ruben, Thankamony Ajay, Lyons Greta, Irwin Rachael, Padidela Raja, Tharian Kavitha, Davies Justin H, Puthi Vijith, Park Soo-Mi, Massoud Ahmed F, Gregory John W, Albanese Assunta, Pease-Gevers Evelien, Martin Howard, Brugger Kim, Maher Eamonn R, Chatterjee V Krishna K, Anderson Carl A, Schoenmakers Nadia
Abstract excerpt
CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE: Our objective was to evaluate the contribution and molecular...
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