Ontology highlight
ABSTRACT:
SUBMITTER: Cim A
PROVIDER: S-EPMC4439895 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Çim Abdullah A Coşkun Salih S Görükmez Orhan O Yüksel Hatice H Uluca Ünal Ü Pietro Erminia Di ED Plourde François F Braverman Nancy Elise NE
Journal of clinical research in pediatric endocrinology 20150301 1
Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic aci ...[more]