title: Congenital heart defects common in rhizomelic chondrodysplasia punctata.
authors.affiliation: Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
authors.forename: Angela L
authors.initials: AL
authors.lastname: Duker
authors.affiliation: Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
authors.forename: Grant
authors.initials: G
authors.lastname: Eldridge
authors.affiliation: Departments of Human Genetics and Pediatrics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.
authors.forename: Nancy E
authors.initials: NE
authors.lastname: Braverman
authors.affiliation: Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Bober
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D000074437:Peroxisomal Targeting Signal 2 Receptor / Q000172:deficiency; D020675:Peroxisomes / Q000473:pathology; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics
chemical_list: D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase