[马凡综合征的眼部表现]
[Ocular manifestations of Marfan syndrome].
作者信息
Chizhonkova E A, Avetisov K S, Avetisov S E, Kharlap S I
机构信息
Research Institute of Eye Diseases, Moscow, Russia.
I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
出版信息
Vestn Oftalmol. 2022;138(4):94-100. doi: 10.17116/oftalma202213804194.
PMID:36004597
Abstract
Marfan syndrome is an orphan disease that is caused by a mutation in the gene located on chromosome 15 (15q21.1) and is usually inherited in an autosomal dominant manner. The article reviews the results of studies concerning the potential ocular manifestations of Marfan syndrome.
摘要
马凡综合征是一种罕见病，由位于15号染色体（15q21.1）上的基因突变引起，通常以常染色体显性方式遗传。本文综述了有关马凡综合征潜在眼部表现的研究结果。
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