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Article

Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.

Human genetics - 1 Dec 2005

Grasberger Helmut, Vaxillaire Martine, Pannain Silvana, Beck John C, Mimouni-Bloch Aviva, Vatin Vincent, Vassart Gilbert, Froguel Philippe, Refetoff Samuel

Abstract excerpt

Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. The shared clinical picture caused by these defects is a variable...

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Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16189712
DOI: 10.1007/s00439-005-0036-6

Genes

PAX8
TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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