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https://doi.org/10.1111/pde.12065
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Cite Journal: Pediatric Dermatology |  Publication Date: Feb 14, 2013 |
 Citations: 5 |
A 14-year-old Iranian boy with congenital cutis laxa and several other typical autosomal recessive type II features was examined. Mutation analysis of the pyrroline-5-carboxylate reductase 1 gene revealed a single-base deletion (c.345delC) in exon 4 leading to frame shift and premature termination of translation.
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