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Article

A functional genetic study identifies HAND1 mutations in septation defects of the human heart.

Human molecular genetics - 1 Oct 2009

Reamon-Buettner Stella Marie, Ciribilli Yari, Traverso Ilaria, Kuhls Beate, Inga Alberto, Borlak Juergen

Abstract excerpt

Heart and neural crest derivatives expressed 1 (HAND1) is a basic helix-loop-helix (bHLH) transcription factor essential for mammalian heart development. Absence of Hand1 in mice results in embryonal lethality, as well as in a wide spectrum of cardiac abnormalities including failed cardiac looping, defective chamber septation and impaired ventricular development. Therefore, Hand1 is a strong candidate for the...

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Source

Identifiers

PMID: 19586923
DOI: 10.1093/hmg/ddp305

Genes

HAND1

Variants

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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