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Article

Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Aug 2017

Muratoğlu Şahin Nursel, Bilici Meliha Esra, Kurnaz Erdal, Pala Akdoğan Melek, Ceylaner Serdar, Aycan Zehra

Abstract excerpt

BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types...

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Identifiers

PMID: 28742517
DOI: 10.1515/jpem-2016-0315

Genes

PEX7

Variants

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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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