title: A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
authors.affiliation: Clinique de Génétique Médicale, INSERM U 12, Paris, France.
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: C
authors.initials: C
authors.lastname: Narcy
authors.forename: P
authors.initials: P
authors.lastname: Quetin
authors.forename: M
authors.initials: M
authors.lastname: Guesnu
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000217:Acyltransferases / Q000032:analysis; D002374:Catalase / Q000378:metabolism; D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism; D012867:Skin / Q000378:metabolism
chemical_list: D010831:Phytanic Acid; D002374:Catalase; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase