Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review.
第一作者:
Manhua,Xu
第一单位:
Research Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital of Sichuan University, Chengdu, 610000, Sichuan Province, China.;Affiliated Hospital of Southwest Medical University, No.25, Taiping Street, Jiangyang District, Luzhou, 646000, Sichuan Province, China.
作者:
医学主题词
青少年(Adolescent);人类(Humans);男(雄)性(Male);角膜疾病(Corneal Diseases);晶体异位(Ectopia Lentis);青光眼(Glaucoma);杂合子(Heterozygote);虹膜(Iris);潜在性TGFβ结合蛋白质类(Latent TGF-beta Binding Proteins);突变(Mutation);系谱(Pedigree)
DOI
10.1186/s12920-021-01080-0
PMID
34535142
发布时间
2024-07-25
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