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Article

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

Journal of clinical research in pediatric endocrinology - 1 Mar 2015

Çim Abdullah, Coşkun Salih, Görükmez Orhan, Yüksel Hatice, Uluca Ünal, Pietro Erminia Di, Plourde François, Braverman Nancy Elise

Abstract excerpt

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...

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Identifiers

PMID: 25800479
DOI: 10.4274/jcrpe.1835
PMCID: PMC4439895

Genes

PEX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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