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Rhizomelic Chondrodysplasia Punctata Type 5
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
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Overview
A rhizomelic chondrodysplasia punctata that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
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