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Article

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).

Human molecular genetics - 15 Jul 2010

Kaasinen Eevi, Aittomäki Kristiina, Eronen Marianne, Vahteristo Pia, Karhu Auli, Mecklin Jukka-Pekka, Kajantie Eero, Aaltonen Lauri A, Lehtonen Rainer

Abstract excerpt

Right atrial isomerism (RAI) is a heterotaxy syndrome with disturbances in the left-right axis development, resulting in complex heart malformations and abnormal lateralization of other thoracic and abdominal organs. Although autosomal-recessive inheritance of heterotaxy syndrome is seen in multi...

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Source

Identifiers

PMID: 20413652
DOI: 10.1093/hmg/ddq164

Genes

GDF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20413652-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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