Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Jessica I. Gold(Thomas Jefferson University), Nina B. Gold(Harvard University), Alanna Strong(Children's Hospital of Philadelphia), Sarina Madhavan(Duke University), Hana Zouk(Harvard University), Marc Yudkoff(Children's Hospital of Philadelphia), Daniel J. Rader(University of Pennsylvania), Theodore G. Drivas(Children's Hospital of Philadelphia), Joseph Park(University of Pennsylvania), Robert C. Green(Boston University), Emma Perez(Brigham and Women's Hospital), Amel Karaa(Istituto delle Scienze Neurologiche di Bologna)

Human Genetics and Genomics Advances

July 28, 2023

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