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BIBTEX RIS

The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

2014; Oxford University Press; Volume: 99; Issue: 3 Linguagem: Inglês

10.1210/jc.2013-3618

ISSN

1945-7197

Autores

Marina Muzza, Sarah Rabbiosi, Maria Cristina Vigone, I. Zamproni, Valentina Cirello, Maria Antonia Maffini, Katia Maruca, Nadia Schoenmakers, Luciano Beccaria, Francesco Gallo, S.-M. Park, P. Beck‐Peccoz, Luca Persani, Giovanna Weber, Laura Fugazzola,

Tópico(s)

RNA modifications and cancer

Resumo

Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect.

Referência(s)