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Article

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

The Journal of clinical endocrinology and metabolism - 1 Aug 2001

Congdon T, Nguyen L Q, Nogueira C R, Habiby R L, Medeiros-Neto G, Kopp P

Abstract excerpt

Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSHbeta-subunit, the TSH receptor, the G(s)alpha-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 TSHbeta-subunit...

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Share to Congenital Hypothyroidism
Share to GTP-Binding Protein alpha Subunits, Gs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Paired Box Transcription Factors

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Share to Receptors, Thyrotropin

Share to Thyroglobulin

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Source

Identifiers

PMID: 11502839
DOI: 10.1210/jcem.86.8.7765

Genes

PAX8
TTF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.PMID 11502839Read ↗

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