P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis
Erica Schindewolf(Children's Hospital of Philadelphia), Ramakrishnan Rajagopalan(Children's Hospital of Philadelphia), Tanaya Jadhav(Children's Hospital of Philadelphia), Adeline Vanderver(Children's Hospital of Philadelphia), Cara Skraban(Children's Hospital of Philadelphia), Kathleen Sullivan(Children's Hospital of Philadelphia), K. Mauer, Kelly Hassey(Children's Hospital of Philadelphia), Gonench Kilich(Children's Hospital of Philadelphia), Christopher Breen(Children's Hospital of Philadelphia), Rebecca Ganetzky(Children's Hospital of Philadelphia)
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