Classifying Hypomyelination: A Critical (White) Matter

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.