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

被引：2

作者：

Chung, Eun Joo ^{[1
,2
]}

You, Eunkyoung ^{[3
]}

Oh, Seung Hwan ^{[4
]}

Seo, Go Hun ^{[5
]}

Chung, Woo Yeong ^{[6
,7
]}

Kim, Yun Joong ^{[8
]}

Kim, Sang Jin ^{[1
,2
]}

机构：

[1] Inje Univ, Coll Med, Dept Neurol, Busan Paik Hosp, Busan, South Korea

[2] Inje Univ, Dementia & Neurodegenerat Dis Res Ctr, Gimhae, South Korea

[3] Inje Univ, Coll Med, Busan Paik Hosp, Dept Lab Med, Busan, South Korea

[4] Pusan Natl Univ, Yangsan Hosp, Dept Lab Med, Yangsan, South Korea

[5] 3billion Inc, Seoul, South Korea

[6] Inje Univ, Busan Paik Hosp, Coll Med, Dept Pediat, Busan, South Korea

[7] Rare Dis Busan Reg Ctr, Busan, South Korea

[8] Yonsei Univ, Coll Med, Yongin Severance Hosp, Dept Neurol, Seoul, South Korea

来源：

JOURNAL OF CLINICAL NEUROLOGY | 2022年 / 18卷 / 02期

关键词：

DEGENERATION;

D O I：

10.3988/jcn.2022.18.2.233

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：233 / 234

页数：2

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