Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

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 previou...

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Bibliographic Details
Main Authors: Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Genetics
Subjects:
TULP1
inherited retinal dystrophy
atypical phenotype
whole-exome sequencing
minigene splice assay
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1352063/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1352063/full

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