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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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Medicine & Life Sciences