A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
作者: Yousuke HiguchiKosei HasegawaMiho YamashitaHiroyuki TanakaHirokazu Tsukahara
作者单位: 1Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
2Okayama University Hospital
3Notre Dame Seishin University
4Okayama Saiseikai General Hospital
刊名: Journal of Medical Case Reports, 2017, Vol.11 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s13256-017-1396-y
关键词: Stickler syndromeCOL2A1Type II collagenopathyMarshall syndrome
原始语种摘要: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1 , COL11A1 , and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome.
全文获取路径: Springer Nature  (合作)

  • syndrome 症候群
  • literature 文献
  • Marshall 马歇尔
  • ophthalmic 眼的
  • patient 有耐性的
  • procollagen 酸溶胶原蛋白
  • mutation 变种
  • review 复审
  • novel 长篇小说
  • varying 变化的