@article{5a6974f3e2fe42858564afd1f6fba139,
title = "Rhizomelic Chrondrodysplasia Punctata Type 2 Resulting from Paternal Isodisomy of Chromosome 1",
author = "\{Descartes, et al\}, Maria and Maria Descartes",
note = "Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal-recessive disorder resulting from mutations in one of three peroxisomal genes essential for ether lipid biosynthesis, PEX7 (RCDP1), GNPAT (RCDP2), and AGPS (RCDP3). Affected patients have characteristic features including shortening of the proximal long bones, epiphyseal stippling, bilateral cataracts, growth and developmental delays.",
year = "2010",
language = "American English",
volume = "152A",
journal = "American Journal of Medical Genetics. Part A",
}