In a second case suffering from PPHCD [ 3 ], a standardized SPARK Inherited Retinal Dystrophy (IRD) panel was performed testing several mutations of indeterminate significance across multiple genes, including CCD2D2A, CEP78, NR2E3, PCARE, PEX14, and RPGRIP1.
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Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.
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