Condition: Thyroid Dyshormonogenesis 3


rs370991693 in LOC105375768;TG gene and Thyroid Dyshormonogenesis 3 PMID 17532758 2007 Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

PMID 17244789 2007 Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

PMID 10199792 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

PMID 16477365 2006 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

PMID 27305979 2016 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

PMID 19509106 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

rs121912648 in TG gene and Thyroid Dyshormonogenesis 3 PMID 23164529 2013 New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

PMID 15769978 2005 A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

PMID 14764776 2004 Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

PMID 10404833 1999 A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

PMID 20410234 2010 New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

PMID 21128992 2011 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.

PMID 17532758 2007 Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

PMID 19509106 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

PMID 10199792 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

PMID 27305979 2016 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

PMID 16477365 2006 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

PMID 17244789 2007 Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

PMID 26813946 2016 Against all odds: blended phenotypes of three single-gene defects.