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Article

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

Clinical endocrinology - 1 Nov 2010

Cangul Hakan, Morgan Neil V, Forman Julia R, Saglam Halil, Aycan Zehra, Yakut Tahsin, Gulten Tuna, Tarim Omer, Bober Ece, Cesur Yasar, Kirby Gail A, Pasha Shanaz, Karkucak Mutlu, Eren Erdal, Cetinkaya Semra, Bas Veysel, Demir Korcan, Yuca Sevil A, Meyer Esther, Kendall Michaela, Hogler Wolfgang, Barrett Timothy G, Maher Eamonn R

Abstract excerpt

OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. D...

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Source

Identifiers

PMID: 20718767
DOI: 10.1111/j.1365-2265.2010.03849.x

Genes

TSHR
PAX8
TSHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20718767-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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