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congenital hyperthyroidism

Known as: hyperthyroidism congenital 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune… Expand
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Review
2006
Review
2006
Congenital Hyperthyroidism: The Fetus as a Patient
Congenital hyperthyroidism is less frequent than congenital hypothyroidism but its impact on growth and development can be as… Expand
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2006
2006
Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.
Constitutively activating thyrotropin receptor (TSHR) germline mutations have been identified as a molecular cause of congenital… Expand
Highly Cited
1998
Highly Cited
1998
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Gain of function mutations in the TSH receptor (TSHR) have been identified as the molecular basis for congenital and acquired… Expand
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1997
1997
Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism.
Congenital hyperthyroidism is a rare, transient disease usually caused by transmission of thyrotropin receptor autoantibodies… Expand
Review
1997
Review
1997
Congenital hyperthyroidism.
Congenital hyperthyroidism is a very rare disease. But, for each affected child it has to be considered as a serious condition… Expand
1996
1996
Mutations of the TSH receptor as cause of congenital hyperthyroidism.
4 patients of two families with congenital persistent hyperthyroidism without detectable autoantibodies are reported. The members… Expand
Highly Cited
1995
Highly Cited
1995
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
Congenital hyperthyroidism is rare. Most cases occur in infants born of mothers with a history of Graves' disease.1 The disorder… Expand
1989
1989
[Congenital hyperthyroidism in maternal Basedow disease].
A case of congenital hyperthyroidism, after pregnancy complicated by Graves' disease is presented. Fetal tachycardia was the… Expand
Review
1954
Review
1954
Congenital goiter with exophthalmos and hyperthyroidism.
  • K. Koerner
  • The Journal of pediatrics
  • 1954
    • Corpus ID: 26339576
Summary A review of the literature revealedten cases of hyperthyroidism in infants under one year of age. Even more unusual is… Expand
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