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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5

Known as: RCDP5 
National Institutes of Health

Related topics

Related topics

16 relations
AsthmaAutosomal recessive inheritanceCompression fractureCongenital cataract
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7… Expand
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