Open AccessNovelNKX2-1Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome
Author(s) -
Tiziana de Filippis,
Federica Marelli,
Maria Cristina Vigone,
Marianna Di Frenna,
Giovanna Weber,
Luca Persani
Publication year - 2014
Publication title -
european thyroid journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.23
H-Index - 10
eISSN - 2235-0802
pISSN - 2235-0640
DOI - 10.1159/000366274
Subject(s) - medicine , frameshift mutation , phenotype , thyroid , lung , pathology , pediatrics , endocrinology , bioinformatics , genetics , gene , biology
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.
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