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  1. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... Congenital hypothyroidism 12 Congenital hypothyroidism similar to idiopathic congenital hypothyroidism Thyroid dysgenesis (aplasia, hypoplasia, or ectopic thyroid gland) Inborn errors ...
  2. Congenital hypothyroidism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism
    ... The cause of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. Studies suggest that 2 to ... PubMed References Grasberger ... molecular causes of thyroid dysgenesis: a systematic review. J Endocrinol Invest. 2013 Sep; ...
  3. PAX8 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pax8
    ... M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. ... Castanet M, Polak M. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ...
  4. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Hyperthyroxinemia, Familial Dysalbuminemic Thyroid Hormone Resistance Syndrome Hypothyroidism Congenital Hypothyroidism Myxedema Thyroid Dysgenesis Lingual Thyroid Lingual Goiter Thyroid Neoplasms Thyroid Nodule ...
  5. SLC26A4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc26a4
    ... Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab. 2014 Jan;99(1): ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... C19.874.482 Hypothyroidism C19.874.482.281 Congenital Hypothyroidism C19.874.482.638 Myxedema C19.874.689 Thyroid Dysgenesis C19.874.689.500 Lingual Thyroid C19.874. ...
  7. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... ... Thyroid C19.874. ...
  8. TSHR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tshr
    ... the gland is smaller than normal. Cases of congenital hypothyroidism caused by TSHR gene mutations are sometimes classified as thyroid dysgenesis because development of the thyroid gland is impaired. ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... of these important hormones.</html:p><html:p >Congenital hypothyroidism occurs ... as thyroid dysgenesis. In the remainder of cases, a normal-sized ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... respiratory distress</other_name><other_name >Chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction</other_name></other_ ...
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