Open AccessThe First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
Author(s) -
Eun Joo Chung,
Eunkyoung You,
Soo-Cheol Oh,
Go Hun Seo,
Woo Yeong Chung,
Yun Joong Kim,
Sang Jin Kim
Publication year - 2022
Publication title -
journal of clinical neurology/the journal of clinical neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.208
H-Index - 45
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2022.18.2.233
Subject(s) - genetics , mutation , biology , genealogy , history , gene