Biallelic TOR1A variants in an infant with severe arthrogryposis

Affiliation

• ¹ Department of Medical Genetics and Genomics (S.C.R., G.H.S.), Children's Minnesota, Minneapolis; Department of Neurology (P.G.-A.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Raymond G. Perelman Center for Cellular & Molecular Therapeutics (P.G.-A.), The Children's Hospital of Philadelphia, PA.