Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
Anna Esteve-Garcia,
Estefania Cobos,
Cristina Sau
et al.
Abstract:Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked by the identification of both a previously unreported and a rarely encountered TULP1 variant.Methods: Whole-exome sequencing was performed to identify potential causative variants. The pathogenicity of the identified TULP1 variants was evaluated through … Show more
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