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Article

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Human molecular genetics - 15 Sept 2003

Brites Pedro, Motley Alison M, Gressens Pierre, Mooyer Petra A W, Ploegaert Ingrid, Everts Vincent, Evrard Philippe, Carmeliet Peter, Dewerchin Mieke, Schoonjans Luc, Duran Marinus, Waterham Hans R, Wanders Ronald J A, Baes Myriam

Abstract excerpt

Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment....

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PMID: 12915479
DOI: 10.1093/hmg/ddg236

Genes

PEX7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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