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Article

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

American journal of medical genetics. Part A - 1 Jul 2011

Sahoo Trilochan, Theisen Aaron, Sanchez-Lara Pedro A, Marble Michael, Schweitzer Daniela N, Torchia Beth S, Lamb Allen N, Bejjani Bassem A, Shaffer Lisa G, Lacassie Yves

Abstract excerpt

Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as isolated congenital anomalies, there exist a large number of Mendelian disorders in which orofacial clefting is part of the clinical phenotype. Here we report on two individuals and one multi-generational family with microdeletions at...

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Share to Bone Morphogenetic Protein 2
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 20

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Source

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Identifiers

PMID: 21671386
DOI: 10.1002/ajmg.a.34063
PMCID: PMC3121907

Genes

BMP2
JAG1

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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