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

1. Citterio, C.E.
2. Coutant, R.
3. Rouleau, S.
4. Miralles García, J.M.
5. Gonzalez-Sarmiento, R.
6. Rivolta, C.M.
7. Targovnik, H.M.