Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.

Clinical genetics - 1 Aug 2025

Stavrén-Eriksson Elin, Hammarsjö Anna, Lindstrand Anna, Nordgren Ann, Grigelioniene Giedre, Pigg Maritta Hellström

Abstract excerpt

Bone morphogenetic protein 2 (BMP-2), encoded by the BMP2 gene located in chromosomal region 20p12, is a signalling protein involved in formation of bone and cartilage and other developmental processes such as cardiac and neural development. Haploinsufficiency of BMP2 has been associated with distinct facial features, short stature, skeletal malformations and cardiac abnormalities. The degree of developmental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Bone Morphogenetic Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Developmental Disabilities

Share to Genetic Association Studies

Share to Haploinsufficiency

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 39970956
DOI: 10.1111/cge.14727
PMCID: PMC12215207

Genes

BMP2

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.PMID 39970956Read ↗

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.Semantic proximity Read ↗

BMPR2 Variants Underlie Nonsyndromic Oligodontia.Semantic proximity Read ↗

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.Semantic proximity Read ↗

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.Semantic proximity Read ↗

BMP2 is a potential causative gene for isolated dextrocardia situs solitus.Semantic proximity Read ↗

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.Semantic proximity Read ↗

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Semantic proximity Read ↗

Whole-Genome Sequencing Identifies Two Novel Rare Mutations in BMP5 and BMP2 in Monozygotic Twins With Microtia.Semantic proximity Read ↗

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.Semantic proximity Read ↗

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.Semantic proximity Read ↗

Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.Semantic proximity Read ↗

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.