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A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism
Author(s) -
Citterio Cintia E.,
Coutant Regis,
Rouleau Stephanie,
Miralles García José M.,
GonzalezSarmiento Rogelio,
Rivolta Carina M.,
Targovnik Héctor M.
Publication year - 2011
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2010.03932.x
Subject(s) - medicine , thyroglobulin , humanities , thyroid , endocrinology , philosophy