NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-fla...

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Veröffentlicht in:	Kidney international 2021-11, Vol.100 (5), p.1092-1100
Hauptverfasser:	Birtel, Johannes, Spital, Georg, Book, Marius, Habbig, Sandra, Bäumner, Sören, Riehmer, Vera, Beck, Bodo B., Rosenkranz, David, Bolz, Hanno J., Dahmer-Heath, Mareike, Herrmann, Philipp, König, Jens, Charbel Issa, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics ciliopathy Cytoskeletal Proteins - genetics Electroretinography Fluorescein Angiography genetic modifier Humans Kidney Diseases, Cystic - genetics nephronophthisis NPHP1 phenotyping Retinal Diseases - genetics retinal imaging Tomography, Optical Coherence Visual Fields
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