Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.
PMID: 25800479 [PubMed - in process]

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research