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Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome

OBJECTIVES: To verify the involvement of NKX2-1 gene in infants with brain-lung-thyroid (BLT) syndrome and hypothyroid phenotypes variable among congenital hypothyroidism (CH) or idiopathic mild hypothyroidism (IMH) of postnatal onset. METHODS: The candidates were selected by a case-finding approach...

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Dettagli Bibliografici
Pubblicato in:Eur Thyroid J
Autori principali: de Filippis, Tiziana, Marelli, Federica, Vigone, Maria Cristina, Di Frenna, Marianna, Weber, Giovanna, Persani, Luca
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4311306/
https://ncbi.nlm.nih.gov/pubmed/25759798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000366274
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