Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.

doi:10.1177/10507256251411983

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Article

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.

Thyroid : official journal of the American Thyroid Association - 1 Feb 2026

Niuro Laura, Ojala Johanna, Ravi Rowmika, Melnyk Vladyslav, Linnossuo Veli, Palmu Sofia, Jännäri Meeri, Tyystjärvi Sofia, Löf Christoffer, Patyra Konrad, Makkonen Kristiina, Jääskeläinen Jarmo, Danner Emmi, Huopio Hanna, Niinikoski Harri, Viikari Liisa, Kero Andreina, Miettinen Päivi, Schoenmakers Nadia, FinnGen FinnGen, Reeve Mary Pat, Kero Jukka

Abstract excerpt

BACKGROUND: Defects in thyroid hormone synthesis at birth lead to congenital hypothyroidism (CH). Recently, pathogenic variants in the SLC26A7 gene have been linked to dyshormonogenetic goitrous CH. This anion transporter is highly expressed in the thyroid and is involved in thyroid hormone synthesis; however, its exact function and cellular localization remain unclear. In this study, we investigated SLC26A7...

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PMID: 41791885
DOI: 10.1177/10507256251411983

Genes

SLC26A7
GNAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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