Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
Author:
Publisher
Informa UK Limited
Subject
Pharmacology,Molecular Medicine
Reference29 articles.
1. Cohen Syndrome: Review of the Literature
2. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
3. Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
4. Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome
5. A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected;Neurobiology of Disease;2023-09
2. Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series;Translational Neuroscience;2023-01-01
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