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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Eur Thyroid J
Päätekijät: de Filippis, Tiziana, Marelli, Federica, Vigone, Maria Cristina, Di Frenna, Marianna, Weber, Giovanna, Persani, Luca
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2014
Aiheet:
Translational Thyroidology / Original Paper
Linkit: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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