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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.

Clinical endocrinology - 1 Apr 2011

Citterio Cintia E, Coutant Regis, Rouleau Stephanie, Miralles García José M, Gonzalez-Sarmiento Rogelio, Rivolta Carina M, Targovnik Héctor M

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PMID: 21128992
DOI: 10.1111/j.1365-2265.2010.03932.x

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