1Devos H,Rodd C,Gagne N,et al.A search for the possible mo lecular mechanisms of thyroid dysgenesis:sex ratios and associated malformations.J Clin Endocrinol Metab,1999,84(7):2502-2506.
3Vono-Toniolo J,Kopp P.Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.Arq Bras Endocrinol Metabol,2004,48(1):70-82.
5de-Sanctis L,Corrias A,Romagnolo D,et al.Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.J Clin Endocrinol Metab,2004,89(11):5669-5674.
6Trueba SS,Auge J,Mattei G,et al.PAX8,TITF1,and FOXE1 gene expression patterns during human development:new insights into human thyroid development and thyroid dysgenesis-associated malformations.J Clin Endocrinol Metab,2005,90(1):455-462.
7Tonacchera M,Banco M,Lapi P,et al.Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate,congenital hypothyroidism,or isolated cleft palate.Thyroid,2004,14(8):584-588.
8Rodrigues C,Jorge P,Soares JP,et al.Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.Eur J Endocrinol,2005,152(2):193-198.
9Kosugi S,Okamoto H,Tamada A,et al.A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.J Clin Endocrinol Metab,2002,87 (8):3830-3836.
10van-de-Graaf SA,Cammenga M,Ponne NJ,et al.The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism.Biochimie,1999,81(5):425-432.