Severe skeletal dysplasia caused by undiagnosed hypothyroidism

Acebron, 1995, Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1, J. Clin. Invest., 96, 781, 10.1172/JCI118123

Amendola, 2005, A mouse model demonstrates a multigenic origin of congenital hypothyroidism, Endocrinology, 146, 5038, 10.1210/en.2005-0882

Andersen, 1969, Nongoiterous Hypothyroidism

Baris, 2006, A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis, J. Clin. Endocrinol. Metab., 10.1210/jc.2006-0405

Castanet, 2005, Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes, Eur. J. Hum. Genet., 13, 232, 10.1038/sj.ejhg.5201321

Clifton-Bligh, 1998, Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia, Nat. Genet., 19, 399, 10.1038/1294

Congdon, 2001, A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child, J. Clin. Endocrinol. Metab., 86, 3962, 10.1210/jc.86.8.3962

Eberle, 1993, Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia, Am. J. Med. Genet., 47, 464, 10.1002/ajmg.1320470405

Gagne, 1998, Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?, J. Clin. Endocrinol. Metab., 83, 1771, 10.1210/jc.83.5.1771

Grasberger, 2005, Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1, Hum. Genet., 118, 348, 10.1007/s00439-005-0036-6

Igo, 1974, Evaluation of the Thyroid Gland

König, 1986, Hypothyroidism in Childhood

Kopp, 2002, Perspective: genetic defects in the etiology of congenital hypothyroidism, Endocrinology, 143, 2019, 10.1210/en.143.6.2019

Krude, 2000, Molecular pathogenesis of neonatal hypothyroidism, Horm. Res., 53, 12, 10.1159/000053199

Macchia, 1998, PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis, Nat. Genet., 19, 83, 10.1038/ng0598-83

Medda, 2005, Risk factors for congenital hypothyroidism: results of a population case–control study (1997–2003), Eur. J. Endocrinol., 153, 765, 10.1530/eje.1.02048

Prader, 1967, Pathologie des Wachstums und der endokrinen Drüsen

Tietze, 1976, Schilddrüsenerkrankungen im Kindesalter, Klinikarzt, 5, 744

Van Vliet, 2003, Development of the thyroid gland: lessons from congenitally hypothyroid mice and men, Clin. Genet., 63, 445, 10.1034/j.1399-0004.2003.00107.x

Vilain, 2001, Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8, J. Clin. Endocrinol. Metab., 86, 234, 10.1210/jc.86.1.234

Zhang, 2005, High-resolution mapping of genotype–phenotype relationships in cri du chat syndrome using array comparative genomic hybridization, Am. J. Hum. Genet., 76, 312, 10.1086/427762