A 7‐year‐old female with hypotonia and scoliosis-Reference-Cited by-同舟云学术

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A 7‐year‐old female with hypotonia and scoliosis

Published:2022-06-05 Issue:6 Volume:32 Page:
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:Brain Pathology

Author:

Saito Yoshihiko¹²³^ORCID,Baba Shimpei³,Komaki Hirofumi³⁴,Nishino Ichizo¹²

Affiliation:

1. Department of Neuromuscular Research National Institute of Neuroscience, National Centre of Neurology and Psychiatry Tokyo Japan

2. Department of Clinical Genome Analysis Medical Genome Center, National Center of Neurology and Psychiatry Tokyo Japan

3. Department of Child Neurology National Institute of Neuroscience, National Center of Neurology and Psychiatry Tokyo Japan

4. Translational Medical Center National Center of Neurology and Psychiatry Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),Pathology and Forensic Medicine,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.13076

Reference3 articles.

1. “Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies

2. Causative variant profile of collagen VI-related dystrophy in Japan

3. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

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. A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review;Neuropathology and Applied Neurobiology;2024-08

2. Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD;Neurology Genetics;2024-04

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