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Journal of Comprehensive Pediatrics
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Whole Exome Sequencing Identifies a Homozygous PYCR1 Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report
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Journal of Comprehensive Pediatrics
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1. In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population
- Khosravi T. , et al.