Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: Clinico-biochemical delineation of a subtype and complementation studies

American Journal of Medical Genetics

Volumn 62, Issue 2, 1996, Pages 164-168

  Barth, Peter G ^a   Wanders, Ronald J A ^a   Schutgens, Ruud B H ^a   Staalman, Chris R ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

complementation; peroxisomal disorder; phytanic acid; rhizomelic chondrodysplasia punctata

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; PHYTANIC ACID; PLASMALOGEN;

ARTICLE; BLOOD LEVEL; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; MENTAL DEFICIENCY; METABOLIC DISORDER; NEUROLOGIC EXAMINATION; PEROXISOME; PRIORITY JOURNAL; SKIN FIBROBLAST;

CELLS, CULTURED; CHILD; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; FIBROBLASTS; HUMANS; MENTAL RETARDATION; PHYTANIC ACID;

EID: 0029875738     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960315)62:2<164::AID-AJMG9>3.0.CO;2-W     Document Type: Article

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