先天性失语症与GJA8致病变异相关：1例报告

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-05-05 DOI:10.1002/ccr3.70286

Sarah A. M. Lucas, Elena Franco, Hannah L. Scanga, Nathan L. Clark, Ken K. Nischal

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引用次数: 0

摘要

先天性无晶状体是一种罕见的眼部疾病，其晶状体不能正常形成。它通常是由FOXE3或HCCS基因内的致病变异引起的；然而，它也可能与GJA8致病变异有关。GJA8应包括在这种疾病患者的基因检测中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report

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Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report

Congenital aphakia is a rare eye condition in which the lens fails to form properly. It is typically caused by pathogenic variants within the FOXE3 or HCCS genes; however, it can also be associated with GJA8 pathogenic variants. GJA8 should be included in the genetic testing of patients with this condition.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).