Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy ; volume:16 ; number:1 ; day:12 ; month:3 ; year:2021 ; pages:1-11 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (12.3.2021), 1-11, 12.2021

Creator: Georgiou, Michalis
Ali, Naser
Yang, Elizabeth
Grewal, Parampal S.
Rotsos, Tryfon
Pontikos, Nikolas
Robson, Anthony G.
Michaelides, Michel

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-021-01759-8

URN: urn:nbn:de:101:1-2021051319225914719302

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

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Georgiou, Michalis
Ali, Naser
Yang, Elizabeth
Grewal, Parampal S.
Rotsos, Tryfon
Pontikos, Nikolas
Robson, Anthony G.
Michaelides, Michel
SpringerLink (Online service)

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Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

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