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Article

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.

Human genetics - 1 Jan 2016

Conte Federica, Oti Martin, Dixon Jill, Carels Carine E L, Rubini Michele, Zhou Huiqing

Abstract excerpt

Orofacial clefts (OFCs) represent a large fraction of human birth defects and are one of the most common phenotypes affected by large copy number variants (CNVs). Due to the limited number of CNV patients in individual centers, CNV analyses of a large number of OFC patients are challenging. The present study analyzed 249 genomic deletions and 226 duplications from a cohort of 312 OFC patients reported in two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26561393
DOI: 10.1007/s00439-015-1606-x
PMCID: PMC4698300

Genes

DGCR6
FGF2
FRZB
LETM1
MAPK3
MEIS2
RAC1
SATB2
SPRY1
THBS1
TSHZ1
TULP4

Provenance

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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Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.PMID 26561393Read ↗

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