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PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

Autor: Starosta RT; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis Clayton Missouri USA., Kerashvili N; Division of Pediatric Neurology, Department of Neurology Washington University in St. Louis Clayton Missouri USA., Pruitt C; Division of Academic Pediatrics, Department of Pediatrics Washington University in St. Louis Clayton Missouri USA., Schultz MJ; Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Boyer SW; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA., Morava E; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA., Lasio MLD; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis Clayton Missouri USA.; Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology Washington University in St. Louis Clayton Missouri USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University in St. Louis Clayton Missouri USA.

Publikováno v: JIMD reports [JIMD Rep] 2023 Sep 20; Vol. 64 (6), pp. 424-433. Date of Electronic Publication: 2023 Sep 20 (Print Publication: 2023).