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Article

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2016

Magne Fabien, Ge Bing, Larrivée-Vanier Stéphanie, Van Vliet Guy, Samuels Mark E, Pastinen Tomi, Deladoëy Johnny

Abstract excerpt

BACKGROUND: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of 1/4000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD is predominantly not inherited and has a high discordance rate (>92%) between monozygotic (MZ) twins. The sporadic nature of CHTD might be explained by...

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Source

Identifiers

PMID: 27125219
DOI: 10.1089/thy.2016.0009

Genes

BCLAF1
FCGBP
USP10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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