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Article

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

The Journal of clinical endocrinology and metabolism - 1 Feb 2008

Deladoëy Johnny, Pfarr Nicole, Vuissoz Jean-Marc, Parma Jasmine, Vassart Gilbert, Biesterfeld Stefan, Pohlenz Joachim, Van Vliet Guy

Abstract excerpt

CONTEXT AND OBJECTIVE: Most cases of goitrous congenital hypothyroidism (CH) from thyroid dyshormonogenesis 1) follow a recessive mode of inheritance and 2) are due to mutations in the thyroid peroxidase gene (TPO). We report the genetic mechanism underlying the apparently dominant inheritance of goitrous CH in a nonconsanguineous family of French Canadian origin. DESIGN, SETTING, AND PARTICIPANTS: Two brothers...

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Source

Identifiers

PMID: 18029453
DOI: 10.1210/jc.2007-2276

Genes

TPO
PAX8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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