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

Camargo, Mauricio; Rivera, Dora; Moreno, Lina; Lidral, Andrew C; Harper, U; Jones, Marypat; Solomon, Benjamin D.; Roessler, Erich; Velez, Jorge I; Martinez, Ariel F; Chandrasekharappa, Settara C; Arcos-Burgos, Mauricio (Oscar)


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 located at 11q25 (rs4937877, P = 2.7 × 10 -6), 19p12 (rs4324267, P = 1.6 × 10 -5),...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: European Journal of Medical Genetics
DOI: 10.1016/j.ejmg.2012.06.005


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