Article

A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and Child

2001-08-01

Abstract excerpt

Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSHβ-subunit, the TSH receptor, the Gsα-subunit, and the transcription factor PAX8. Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). Mutations in the coding region of the TSHβ-subunit gene, the TSH r...

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Thyroid Disorders and Treatments

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Literature Corpus work: ae2eeaec-b98c-5b49-b37f-a836f92254a8
DOI: 10.1210/jc.86.8.3962

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