Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-...

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Detalles Bibliográficos
Autores principales: Özhan, Bayram, Boz Anlaş, Özlem, Sarıkepe, Bilge, Albuz, Burcu, Semerci Gündüz, Nur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596811/
https://www.ncbi.nlm.nih.gov/pubmed/28515030
http://dx.doi.org/10.4274/jcrpe.4595

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