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Rhizomelic Chondrodysplasia Punctata Type 1
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
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Overview
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.