Atypical features in two adult patients with Cockayne syndrome and analysis of genotype–phenotype correlation-Reference-Cited by-同舟云学术

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Atypical features in two adult patients with Cockayne syndrome and analysis of genotype–phenotype correlation

Published:2023-04-27 Issue:17 Volume:136 Page:2110-2112
ISSN:0366-6999
Container-title:Chinese Medical Journal
language:en
Short-container-title:

Author:

Cheng Haoling¹,Chen Dianfu²,Wu Zhiying²,Wang Ning¹³

Affiliation:

1. Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China

2. Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310000, China

3. Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,General Medicine

Reference5 articles.

1. Dwarfism with retinal atrophy and deafness;Cockayne;Arch Dis Child,1936

2. Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome;Wu;Mol Genet Genomic Med,2020

3. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome;Calmels;J Med Genet,2018

4. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes in-volved in Cockayne syndrome;Laugel;Hum Mutat,2010

5. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias;Cheng;Transl Neurodegener,2021

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