Article
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cold Spring Harbor molecular case studies - 1 Jun 2020
Cömert Cagla, Brick Lauren, Ang Debbie, Palmfeldt Johan, Meaney Brandon F, Kozenko Mariya, Georgopoulos Costa, Fernandez-Guerra Paula, Bross Peter
Abstract excerpt
Standardization of the use of next-generation sequencing for the diagnosis of rare neurological disorders has made it possible to detect potential disease-causing genetic variations, including de novo variants. However, the lack of a clear pathogenic relevance of gene variants poses a critical limitation for translating this genetic information into clinical practice, increasing the necessity to perform...
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