article_metadata: Gavin Esson Ian Logan Katrina Wood Andrew C Browning John A Sayer
article_metadata: 10.1007/s44162-024-00031-4
article_metadata: J Rare Dis (Berlin)
article_metadata: 2024;3(1):7.
article_metadata: disease kidney failure nphp1 homozygous deletion nephronophthisis retinal dystrophy senior-løken syndrome
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38433745/
article_metadata: Case Reports
article_metadata: PMC10904492
article_metadata: 38433745
article_metadata: Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure
article_metadata: 2024