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Article

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

Journal of clinical research in pediatric endocrinology - 1 Sept 2014

Cangül Hakan, Doğan Murat, Sağlam Yaman, Kendall Michaela, Boelaert Kristien, Barrett Timothy G, Maher Eamonn R

Abstract excerpt

OBJECTIVE: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family. METHODS: Since CH is usually inherited in autosomal recessive manner in consanguineous/multi-case families, we adopted a two-stage...

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Source

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Identifiers

PMID: 25241611
DOI: 10.4274/Jcrpe.1404
PMCID: PMC4293646

Genes

TPO

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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