TY - JOUR
T1 - Rhizomelic chondrodysplasia punctata type 1
T2 - Report of mutations in 3 children from India
AU - Phadke, S. R.
AU - Gupta, N.
AU - Girisha, K. M.
AU - Kabra, M.
AU - Maeda, M.
AU - Vidal, E.
AU - Moser, A.
AU - Steinberg, S.
AU - Puri, R. D.
AU - Verma, I. C.
AU - Braverman, N.
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
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M3 - Article
C2 - 20145307
AN - SCOPUS:76649120212
SN - 1234-1983
VL - 51
SP - 107
EP - 110
JO - Journal of Applied Genetics
JF - Journal of Applied Genetics
IS - 1
ER -