Title : 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 CE , Coutant R , Rouleau S , Miralles Garcia JM , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Clinical Endocrinology (Oxf) , 74 :533 , 2011 |
PubMedID: 21128992 |
Gene_locus related to this paper: human-TG |