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Article

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.

Journal of human genetics - 1 Jul 2014

Noguchi Masafumi, Honsho Masanori, Abe Yuichi, Toyama Ryusuke, Niwa Hajime, Sato Yoshiteru, Ghaedi Kamran, Rahmanifar Ali, Shafeghati Yousef, Fujiki Yukio

Abstract excerpt

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis. RCDP type 1, the most prominent type, is caused by the dysfunction of the receptor of peroxisome targeting signal type 2, Pex7 (peroxisomal biogenesis factor 7), and the rest of the patients, RCDP types 2 and 3, have defects in peroxisomal enzymes catalyzing the initial two steps of...

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Identifiers

PMID: 24849933
DOI: 10.1038/jhg.2014.39

Genes

AGPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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