rhizomelic chondrodysplasia punctata, type 1 (complementation group 11)

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Introduction

Complementation group 11 of peroxisome biogenesis disorders.

Genetics

  • associated with defects in PEX7

Clinical manifestations

More general terms

References

  1. Braverman N et al Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genetics 15:369-76 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090381
    Motley AM et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genetics 15:377-80 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090382
    Purdue PE et al. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nature Genetics 15:381-4 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9090383

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