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4 articles related to "Cone Dystrophy"

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Articles

Case Report

Published on 01 Oct 2021

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRORF15-Associated Retinal Disorder

in Genetics of Common and Rare Diseases

Aekkachai Tuekprakhon
Aulia Rahmi Pawestri
Ragkit Suvannaboon
Ketwarin Thongyou
Adisak Trinavarat
La-Ongsri Atchaneeyasakul

Frontiers in Genetics

doi 10.3389/fgene.2021.728085

5,422 views
3 citations

Original Research

Published on 21 Jul 2023

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

in Molecular and Cellular Pathology

Elena Fernández-Suárez
María González-del Pozo
Alejandro García-Núñez
Cristina Méndez-Vidal
Marta Martín-Sánchez
José Manuel Mejías-Carrasco
Manuel Ramos-Jiménez
María José Morillo-Sánchez
Enrique Rodríguez-de la Rúa
Salud Borrego

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2023.1197744

4,286 views
12 citations

Original Research

Published on 01 Mar 2021

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations

in Molecular and Cellular Pathology

Qing Zhu
Xue Rui
Ya Li
Ya You
Xun-Lun Sheng
Bo Lei

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.634843

6,980 views
18 citations

Original Research

Published on 28 Jun 2022

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

in Human and Medical Genomics

Paolo Enrico Maltese
Leonardo Colombo
Salvatore Martella
Luca Rossetti
Said El Shamieh
Lorenzo Sinibaldi
Chiara Passarelli
Andrea Maria Coppè
Luca Buzzonetti
Benedetto Falsini

Frontiers in Genetics

doi 10.3389/fgene.2022.914345

6,783 views
14 citations