Associated Papers
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I et al.
Kidney International Reports, 2019
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E et al.
Molecular Syndromology, 2011
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA et al.
Nature Genetics, 2010
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