Open AccessThe Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects
Author(s) -
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. BeckPeccoz,
Luca Persani,
Giovanna Weber,
Laura Fugazzola
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-3618
Subject(s) - missense mutation , congenital hypothyroidism , frameshift mutation , nonsense , nonsense mutation , medicine , exon , mutation , genetics , endocrinology , gene , pediatrics , biology , thyroid
Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect.
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