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Article

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Clinical genetics - 1 Jan 2025

Gregersen Pernille Axél, Hammarsjö Anna, Graversen Lise, Brix Nis, Lindelöf Hillevi, Jensen Uffe Birk, Farholt Stense, Rubak Sune, Bjerre Jesper, Piticchio Serena G, Terkelsen Thorkild, Nishimura Gen, Hellfritzsch Michel Bach, Grigelioniene Giedre

Abstract excerpt

The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been associated with variants in BMP5. Here, we report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility,...

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Source

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Identifiers

PMID: 39239663
DOI: 10.1111/cge.14616
PMCID: PMC11608849

Genes

BMP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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