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A Novel COL11A1 Variant in a Child with Neuromuscular Findings: Expanding the Genotypic and Phenotypic Spectrum of COL11A1-related Disease

Author:McAnally, Meghan   Potticary, Abigail   Donkervoort, Sandra   Hu, Ying   Pais, Lynn   Huryn, Laryssa   Foley, A. Reghan   Bonnemann, Carsten   

Session Name:P4: Child Neurology and Developmental Neurology: Pediatric Neuromuscular  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.003  

Author Institution:NINDS/NIH, Bethesda, MD  Broad Institute of MIT and Harvard, Cambridge, MA  NEI/NIH, Bethesda, MD