Xuan Zou Fengxia Yao Fengrong Li Shijing Wu Hui Li Zixi Sun Tian Zhu Xing Wei Donghui Li Ruifang Sui
Mol Vis
2021 May 7;27:221-232.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/34012225/
Ataxin-7 / genetics Cone-Rod Dystrophies / diagnosis Cone-Rod Dystrophies / genetics
Ataxin-7 / genetics Cone-Rod Dystrophies / diagnosis Cone-Rod Dystrophies / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Asian People / genetics Child, Preschool China / epidemiology Electroretinography Female Humans Male Middle Aged Molecular Diagnostic Techniques Ophthalmoscopy Optical Imaging Pedigree Tomography, Optical Coherence Trinucleotide Repeats ATXN7 protein, human Ataxin-7
PMC8116265
34012225
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
2021