Confirming the Enzymatic Activity and Neurodevelopmental Trajectory of PYCR1 Mutation in One Child with Autosomal-Recessive Cutis Laxa Type 2.
Molecular Genetics and Genomics（2024）
Key words
Pyrroline-5-carboxylate reductase 1 (PYCR1),Autosomal recessive cutis laxa type 2B (ARCL2B),Wrinkly skin disorder,Developmental delay,Missense mutation,Enzyme activity
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