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Article

Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2009

Ozbek Mehmet Nuri, Uslu Abdi Burak, Onenli-Mungan Neslihan, Yuksel Bilgin, Pohlenz Joachim, Topaloglu Ali Kemal

Abstract excerpt

In Turkey congenital hypothyroidism (CH) occurs with a prevalence of one in 2,736 newborns while the worldwide incidence is one in 3,000-4,000 newborns. 85-90% of these cases are due to dysgenesis of the thyroid gland, whereas defects in thyroid hormone synthesis account for 10-15%. The majority...

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Source

Identifiers

PMID: 20101889
DOI: 10.1515/jpem.2009.22.11.1033

Genes

TPO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20101889-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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