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Rhizomelic chondrodysplasia punctata--a new clinical variant
- Source :
- Journal of inherited metabolic disease, 15(6), 931-932. Springer Netherlands
- Publication Year :
- 1992
- Subjects :
- Blood Platelets
Chondrodysplasia Punctata
Pediatrics
medicine.medical_specialty
Pathology
Erythrocytes
Plasmalogens
Limb Deformities, Congenital
Consanguinity
Peroxisomal disorder
Genetics
medicine
Humans
Chondrodysplasia punctata
Genetics (clinical)
Rhizomelic chondrodysplasia punctata
business.industry
Infant, Newborn
Calcinosis
Fibroblasts
medicine.disease
Osteochondrodysplasia
Human genetics
Phytanic Acid
Female
business
Acyltransferases
Subjects
Details
- Language :
- English
- ISSN :
- 01418955
- Volume :
- 15
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Journal of inherited metabolic disease
- Accession number :
- edsair.doi.dedup.....b69af065fab4aaa6b5c56cf1bcdf3d4c