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Article

GWAS reveals new recessive loci associated with non-syndromic facial clefting.

European journal of medical genetics - 1 Oct 2012

Camargo Mauricio, Rivera Dora, Moreno Lina, Lidral Andrew C, Harper Ursula, Jones Marypat, Solomon Benjamin D, Roessler Erich, Vélez Jorge I, Martinez Ariel F, Chandrasekharappa Settara C, Arcos-Burgos Mauricio

Abstract excerpt

We have applied a GWAS to 40 consanguineous families segregating cases of non-syndromic cleft lip with or without cleft palate (NS CL/P) (a total of 160 affected and unaffected individuals) in order to trace potential recessive loci that confer susceptibility to this common facial malformation. Pedigree-based association test (PBAT) analyses reported nominal evidence of association and linkage over SNP markers...

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Identifiers

PMID: 22750566
DOI: 10.1016/j.ejmg.2012.06.005
PMCID: PMC3521569

Genes

CSMD1

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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