TY  - JOUR 
AU  - Coco Martín, Rosa María
AU  - Sánchez Tocino, Hortensia Trinidad
AU  - Desco, Carmen
AU  - Usategui Martín, Ricardo
AU  - Tellería Orriols, Juan José
PY  - 2020
SN  - 2073-4425
UR  - https://uvadoc.uva.es/handle/10324/68938
AB  - ABSTRACT: Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene...
LA  - eng
PB  - MDPI
KW  - ABCA4; AVMD; CACD; PRPH2; blended phenotypes; extensive chorioretinal atrophy; inherited retinal diseases; pattern dystrophy simulating FF.
TI  - PRPH2-related retinal diseases: broadening the clinical spectrum and describing a new mutation
DO  - 10.3390/genes11070773
ER  -