This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.
这项研究强调了在视神经萎缩评估中纳入WFS1测序以发现综合征的重要性。
新的错义 WFS1 变异导致常染色体显性非典型 Wolfram 综合征
关键词: WFS1 Wolfram-like syndrome Wolframin atypical Wolfram-like syndrome optic atrophy sensorineural hearing loss
Mesh : Humans Atrophy Hearing Loss, Sensorineural / diagnosis genetics Membrane Proteins / genetics Mutation Mutation, Missense Optic Atrophy / diagnosis genetics Wolfram Syndrome / diagnosis genetics
来 源: DOI:10.1080/13816810.2022.2068038