Classifying Hypomyelination: A Critical (White) Matter

Child Neurology Open

article

Stefanie Perrier¹  Sara Matovic¹  Geneviève Bernard¹ 

[1] Department of Neurology and Neurosurgery, McGill University;Child Health and Human Development Program, Research Institute of the McGill University Health Centre;Department of Pediatrics and Department of Human Genetics, McGill University;Department of Specialized Medicine, Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre

关键词: genetics;    leukodystrophy;    magnetic resonance imaging;    MRI;    neuroimaging;    next-generation sequencing;   

DOI  :  10.1177/2329048X20983761

学科分类：电子与电气工程

来源: Sage Journals

【 摘 要 】

We read with great interest the publication by Urbik et al. titled “Expanded phenotypic definition identifies hundreds of potential causative genes for leukodystrophies and leukoencephalopathies.”1 We commend the authors for their work on this study, and for constructing such an extensive list of causative genes for genetic white matter disorders. With the utmost respect, we acknowledge the importance of this work, and truly appreciate that phenotype-specific gene lists provide guidance to both clinicians and researchers, especially when considering the diagnostic odyssey of rare inherited neurological disorders. We recognize the value of such publication and anticipate that it may inspire others to delve into the literature to create other phenotype-specific gene lists.

【 授权许可】

CC BY|CC BY-NC