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Article

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

European journal of medical genetics - 1 Jan 2012

Breckpot Jeroen, Tranchevent Léon-Charles, Thienpont Bernard, Bauters Marijke, Troost Els, Gewillig Marc, Vermeesch Joris R, Moreau Yves, Devriendt Koenraad, Van Esch Hilde

Abstract excerpt

Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism and an atrioventricular septal defect. Based on this finding, complemented with computational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22067610
DOI: 10.1016/j.ejmg.2011.10.003

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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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BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.PMID 22067610Read ↗

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