A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.

IF 4 2区 医学 Q1 CLINICAL NEUROLOGY Neuropathology and Applied Neurobiology Pub Date : 2024-08-01 DOI:10.1111/nan.13004
Rasha El Sherif, Yoshihiko Saito, Rasha S Hussein, Yayoi Izu, Manuel Koch, Satoru Noguchi, Ichizo Nishino
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COL12A1中的一种新型同卵无义变体会导致肌病性埃勒斯-丹洛斯综合征:病例报告和文献综述
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来源期刊
CiteScore
8.20
自引率
2.00%
发文量
87
审稿时长
6-12 weeks
期刊介绍: Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.
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