Article
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.
Journal of medical genetics - 1 Jun 2003
Jezewski P A, Vieira A R, Nishimura C, Ludwig B, Johnson M, O'Brien S E, Daack-Hirsch S, Schultz R E, Weber A, Nepomucena B, Romitti P A, Christensen K, Orioli I M, Castilla E E, Machida J, Natsume N, Murray J C
Abstract excerpt
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population...
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