Supplementary Material for: Novel OFD1 Mutation Results in Unusually Early Onset Polycystic Kidney Disease
Introduction Mutations of the OFD1 gene cause Oral-Facial-Digital Syndrome Type 1 (OFD 1) and variations of the related ciliopathies Joubert Syndrome and Primary Ciliary Dyskinesia (PCD). OFD 1 manifests with skeletal, CNS, and renal abnormalities with prevalence estimated between 1 in 50,000 and 1...
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2025
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