Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy by Satoru Noguchi, Megumu Ogawa, May Christine Malicdan, Ikuya Nonaka, Ichizo Nishino

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Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts by Satoru Noguchi, Megumu Ogawa, Genri Kawahara, May Christine Malicdan, Ichizo Nishino

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P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion by Daniah Albokhari, Meral Gunay-Aygun, Julie Hoover-Fong, May Christine Malicdan

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P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome* by Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander

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P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications by David D'Onofrio, Andrea Cohen, Meredith Gillis, Seth Berger, May Christine Malicdan, William Gahl, David Adams, Camilo Toro, Thomas Cassini

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