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The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

Authors :
Eun Joo Chung
Eunkyoung You
Seung Hwan Oh
Go Hun Seo
Woo Yeong Chung
Yun Joong Kim
Sang Jin Kim
Source :
Journal of Clinical Neurology. 18:233
Publication Year :
2022
Publisher :
Korean Neurological Association, 2022.

Subjects

Subjects :
Neurology
Neurology (clinical)

Details

ISSN :
20055013 and 17386586
Volume :
18
Database :
OpenAIRE
Journal :
Journal of Clinical Neurology
Accession number :
edsair.doi...........21a51408ed3b6a2ad9ea89f47ae2d172
Full Text :
https://doi.org/10.3988/jcn.2022.18.2.233