A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
作者信息
El Sherif Rasha, Saito Yoshihiko, Hussein Rasha S, Izu Yayoi, Koch Manuel, Noguchi Satoru, Nishino Ichizo
机构信息
Myo-Care Neuromuscular Center, Myo-Care National Foundation, Cairo, Egypt.
School of Medicine, New Giza University, Cairo, Egypt.
出版信息
Neuropathol Appl Neurobiol. 2024 Aug;50(4):e13004. doi: 10.1111/nan.13004.
PMID:39087360
Abstract
摘要
Zotero 插件