-相关纤毛病：1例新病例及对147例报告病例眼部表现的主要综述。
-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases.
作者信息
Reddy Shivania, Simmers Russell, Shah Arth, Couser Natario
机构信息
Virginia Commonwealth University School of Medicine Richmond Virginia USA.
Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Richmond Virginia USA.
出版信息
Clin Case Rep. 2023 Aug 30;11(9):e7818. doi: 10.1002/ccr3.7818. eCollection 2023 Sep.
Abstract
Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.
摘要
我们的病例报告及综述通过强化致病基因变异与多种眼科异常之间的关系，有助于增进对NPHP1纤毛病眼部表现的理解。
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