Open AccessDUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
Author(s) -
Marina M. L. Kizys,
Ruy A. Louzada,
Miguel MitneNeto,
Jessica R Jara,
Gilberto K. Furuzawa,
Denise Pires de Carvalho,
Magnus R. DiasdaSilva,
Suzaesi-França,
Corinne Dupuy,
Rui M. B. Maciel
Publication year - 2017
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.2017-00832
Subject(s) - thyroid , sanger sequencing , exome sequencing , congenital hypothyroidism , mutation , gene , endocrinology , hormone , medicine , biology , genetics
Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%).
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