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Results 1 - 4 of 4 for Thyroid hypoplasia
  1. SLC26A4 gene 
    ... been associated with an abnormally small thyroid gland (thyroid hypoplasia) that causes a loss of thyroid function from ... It is unclear whether Pendred syndrome, DFNB4, and thyroid hypoplasia caused by SLC26A4 gene mutations are best considered ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  2. PAX8 gene 
    ... S, Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. ...
    https://medlineplus.gov/genetics/gene/pax8 - Genetics
  3. TSHR gene 
    ... Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. ... the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab. 2012;25(5-6): ...
    https://medlineplus.gov/genetics/gene/tshr - Genetics
  4. SEPSECS gene 
    ... also play a role in turning on (activating) thyroid hormones and are involved in immune ... called pontocerebellar hypoplasia. The major features of this condition include delayed ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics