髓鞘形成不全与先天性白内障：一个新的可能致病的基因变异c.414+1G>A的鉴定
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in gene Variant.
作者信息
Troncoso Mónica, Balut Fernanda, Witting Scarlet, Rubilar Carla, Carrera Jorge, Cartes Fabiola, Herrera Luisa
机构信息
Hospital Clinico San Borja Arriaran Pediatric Neurology. Pediatric Department Central Campus Facultad de Medicina Universidad de Chile Santiago Chile.
Hospital de Puerto Montt Santiago Chile.
出版信息
Clin Case Rep. 2021 May 19;9(5):e04171. doi: 10.1002/ccr3.4171. eCollection 2021 May.
Abstract
It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
摘要
对于患有先天性白内障并伴有诸如脑白质营养不良或多发性神经病等临床特征的患者，扩大鉴别诊断范围并考虑可能的遗传病因是关键。
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