Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: Expanding the spectrum of PRPS1-related disorders

Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, Elise Heon, Mark Tarnopolsky, Fathiya Al-Murshedi, Christian R. Marshall, Tara Paton, Stephen W. Scherer, Jeroen Roelofsen, André B.P. Van Kuilenburg, Roberto Mendoza-Londono^*