Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set eac...

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Hlavní autoři: Barreiro, Jesús, Alonso-Fernândez, Jóse Ramón, Castro-Feijoo, Lidia, Colón, Cristóbal, Cabanas, Paloma, Heredia, Claudia, Castaño, Luis Antonio, Gómez-Lado, Carmen, Couce, M.Luz, Pombo, Manuel
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2011
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3245495/
https://ncbi.nlm.nih.gov/pubmed/22155464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.448
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