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.
Cintia E
CE
Citterio
Regis
R
Coutant
Stephanie
S
Rouleau
José M
JM
Miralles García
Rogelio
R
Gonzalez-Sarmiento
Carina M
CM
Rivolta
Héctor M
HM
Targovnik
D000328:Adult; D005260:Female; D006042:Goiter / Q000209:etiology* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology* / Q000235:genetics*; D009154:Mutation; D013954:Thyroglobulin / Q000235:genetics*
D013954:Thyroglobulin