Výsledky vyhledávání - "Emanuela Zazzetta"

Current Loss-of-Function Mutations in the Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment

Autor: Emanuela Zazzetta, Angela Rizzello, Alessandra Cassio, Annalisa Nicoletti, Lilia Baldazzi, Milva Orquidea Bal

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology

Thyroid-stimulating hormone receptor (TSHR) loss-of-function (LOF) mutations lead to a wide spectrum of phenotypes, ranging from severe congenital hypothyroidism (CH) to mild euthyroid hyperthyrotropinemia. The degree of TSH resistance depends on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0405b801508d65db66b778eb5d7509eb
http://europepmc.org/articles/PMC3608004

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