Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

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 eigh...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155683/
https://www.ncbi.nlm.nih.gov/pubmed/27525530
http://dx.doi.org/10.1210/jc.2016-1879

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