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Article

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014

Cangul Hakan, Saglam Halil, Saglam Yaman, Eren Erdal, Dogan Durmus, Kendall Michaela, Tarim Omer, Maher Eamonn R, Barrett Timothy G

Abstract excerpt

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and 2% of cases have familial origin. Our aim in this study was to determine the genetic alterations in two siblings with CH coming from a consanguineous family. Because CH is often inherited in autosomal recessive manner in consanguineous/multicase-families, we first performed genetic linkage studies to all known causative CH loci...

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Source

Identifiers

PMID: 24859513
DOI: 10.1515/jpem-2014-0048

Genes

TSHR

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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