Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review

Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review

Objective To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review. Methods We collected the clinical data of the patient...

Full description

Bibliographic Details
Main Authors: CHEN Meiping, YANG Hongbo, PAN Hui, FENG Feng, ZHU Yicheng, ZHU Huijuan
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2023-07-01
Series:罕见病研究
Subjects:
rnf216 gene
gordon holmes syndrome
hypogonadotropic hypogonadism
cerebellar ataxia
neurodegenerative diseases
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.03.004

Internet

https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.03.004

Similar Items