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2010 | 51 | 1 | 107-110
Article title

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

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EN
Abstracts
EN
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 in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.
Discipline
Year
Volume
51
Issue
1
Pages
107-110
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ARTICLE
Publication order reference
S.R. Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India
YADDA identifier
bwmeta1.element.element-from-psjc-161eb23c-c8a2-3542-9091-81aef2dcc3fc
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