Article
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
Journal of applied genetics - 1 Jan 2010
Phadke S R, Gupta N, Girisha K M, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri R D, Verma I C, Braverman N
Abstract excerpt
Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified...
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