Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
SourcePlos Genetics, 15, 4, (2019), article e1008088
Article / Letter to editor
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SubjectAll institutes and research themes of the Radboud University Medical Center; Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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