| アイテムタイプ |
文献 / Documents(1) |
| 公開日 |
2025-03-17 |
| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1038/s41439-024-00287-8 |
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関連名称 |
10.1038/s41439-024-00287-8 |
| 出版タイプ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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タイトル |
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant : a case report |
| 著者 |
Hanada, Kenta
大崎, 裕亮
宮本, 亮介
Muto, Kohei
Haji, Shotaro
Nazere, Keyoumu
桑野, 由紀
森野, 豊之
Azuma, Yoshiteru
Miyatake, Satoko
Matsumoto, Naomichi
和泉, 唯信
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| 抄録 |
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内容記述 |
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes. |
| 書誌情報 |
en : Human Genome Variation
巻 11,
p. 29,
発行日 2024-08-15
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| 収録物ID |
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収録物識別子タイプ |
EISSN |
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収録物識別子 |
24058440 |
| 出版者 |
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出版者 |
Springer Nature |
| 権利情報 |
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権利情報 |
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| EID |
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識別子 |
413661 |
| 言語 |
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言語 |
eng |
hgv_11_29.pdf (2.4 MB)
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