Associated Papers
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Tang X et al.
Heliyon, 2024
A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies.
Keyser MN et al.
American Journal of Medical Genetics. Part A, 2022
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