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Article

A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element.

American journal of medical genetics. Part A - 1 Nov 2017

Justice Cristina M, Kim Jinoh, Kim Sun-Don, Kim Kyunhgho, Yagnik Garima, Cuellar Araceli, Carrington Blake, Lu Chung-Ling, Sood Raman, Boyadjiev Simeon A, Wilson Alexander F

Abstract excerpt

Craniosynostosis presents either as a nonsyndromic congenital anomaly or as a finding in nearly 200 genetic syndromes. Our previous genome-wide association study of sagittal nonsyndromic craniosynostosis identified associations with variants downstream from BMP2 and intronic in BBS9. Because no coding variants in BMP2 were identified, we hypothesized that conserved non-coding regulatory elements may alter BMP2...

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Share to Animals, Genetically Modified
Share to Bone Morphogenetic Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Conserved Sequence

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Share to Regulatory Sequences, Nucleic Acid

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Source

Open in PubMed Open full text

Identifiers

PMID: 28985029
DOI: 10.1002/ajmg.a.38392
PMCID: PMC5659764

Genes

BMP2
BBS9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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