Article
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008
Rubio Ileana G S, Galrao Ana Luiza, Pardo Viviane, Knobel Meyer, Possato Roberta F, Camargo Rosalinda R Y, Ferreira Marcelo A, Kanamura Cristina T, Gomes Simone A, Medeiros-Neto Geraldo
Abstract excerpt
OBJECTIVE: To extend the molecular analysis of the IVS30+1G>T intronic thyroglobulin (TG) mutation, and to report the eleven year follow-up of the affected patients. METHOSD: Two siblings with severe congenital hypothyroidism with fetal and neonatal goiter, harboring the IVS30+1G>T mutation were included. Nodular and non-nodular thyroid tissue specimens were collected. Specific thyroid genes expression was...
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