Sep 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 9, pp.
708-714
· 0 citations
Medicine
TL;DR
The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.
Findings have enriched the mutational spectrum of the FBN1 gene among Chinese MFS patients and provided a basis for the genetic counseling and clinical management.
Ren-Hua Wu, Lei Sun, Bao-Zhu Liu et al.· Zhonghua yi xue yi chuan xue...· 0 citations
The mutational spectrum of KMT2B is expands the mutational spectrum of KMT2B and provides additional evidence to support the genetic diagnosis and counseling of patients with KMT2B-related dystonia.
Wenlong Shen, Xiaopan Chen, Yajie Yuan et al.· Global Medical Genetics· 0 citations
The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.
Yong Zhao, Nuo Li, Yu Han et al.· Zhonghua yi xue yi chuan xue...· 0 citations
The splice site mutation of MYH9 was predicted to be pathogenic by Mutation Taster and Polyphen software programs and was identified in this particular case, and is added to the broad spectrum of potential MYH9 mutations.
Haocheng Li, Xiang Li, Wanlei Sun et al.· Annals of Hematology· 0 citations
It is shown that SQSTM1-associated ALS predominantly presents with limb onset, with a subset of patients exhibiting frontotemporal dementia or Paget’s disease, and its pathogenicity remains uncertain and requires further functional validation and pedigree confirmation.
Boyan Su, Ling Li, Xiaoxiao Zheng et al.· Neurogenetics· 0 citations
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