A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome-Reference-Cited by-同舟云学术

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A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome

Published:2024-02-27 Issue:1 Volume:51 Page:
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Liu Meng-Wei,Hu Cheng-Feng,Jin Jie-Yuan,Xiang Rong,Fan Liang-liang,Li Ya-Li,Zhu Lei

Funder

Innovation Foundation for Postgraduate of Central South University

the Clinical Medical Personnel Training Program of Hebei Provincial Health Commission

Inner Mongolia Science and Technology Innovation Guidance Project

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11033-024-09235-9.pdf

Reference16 articles.

1. Cockayne EA (1936) Dwarfism with retinal atrophy and deafness. Arch Dis Child 11(61):1–8

2. Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V (2021) Diagnostic and severity scores for Cockayne syndrome. Orphanet J Rare Dis 16(1):63

3. Carroll J, Pabst L, Koboldt DC, Franklin SJ, Choi S, Wilson RK, Lo W (2023) Novel presentation of hemiplegic migraine in a patient with Cockayne Syndrome. Pediatr Neurol 138:95–97

4. Wang X, Li Y, Zhao A, Wang Y, Cao Q, Pan C, Li M (2023) Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome. Mol Genet Genom Med 11:e2254

5. Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP et al (2022) A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells 11(19):3090

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