| アイテムタイプ |
itemtype_ver1(1) |
| 公開日 |
2025-03-04 |
| タイトル |
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|
タイトル |
16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review |
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言語 |
en |
| 著者 |
Watanabe, Daisuke
Yagasaki, Hideaki
Narusawa, Hiromune
Inukai, Takeshi
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| 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 |
| 権利 |
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|
権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
|
言語 |
en |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
16p13.11 microduplication |
| キーワード |
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|
主題Scheme |
Other |
|
主題 |
copy number variants (CNVs) |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
growth retardation |
| キーワード |
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|
主題Scheme |
Other |
|
主題 |
developmental disorders |
| 内容記述 |
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|
内容記述タイプ |
Abstract |
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内容記述 |
Short stature and growth retardation is a common condition in children. Genetic variations are responsible for many cases of short stature of unknown etiology. In particular, pathogenic copy number variants (CNVs) have been found in 10%–16% of children with unexplained short stature. This paper reports on a 5-year-old Japanese girl with both growth retardation and developmental delay associated with a 16p13.11 microduplication. Although the patient’s mother also carries this microduplication, she did not show growth retardation and developmental delay. These cases illustrate the diverse phenotypic manifestations of 16p13.11 microduplication. Consequently, we conducted the literature review of 274 cases associated with this duplication revealed neurological disorders in approximately 70% of cases, 15.3% of these cases were associated with short stature. Diagnosis of 16p13.11 microduplication remains challenging due to its diverse symptomatology and elusive genotype–phenotype correlations. Comprehensive genetic evaluation is crucial for patients presenting with short stature and developmental disorders, underscoring the need for further investigation into the 16p13.11 microduplication to clarify its specific role and implications. |
|
言語 |
en |
| 出版者 |
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|
出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
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|
資源タイプresource |
http://purl.org/coar/resource_type/c_6501 |
|
タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| ID登録 |
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|
ID登録 |
10.18999/nagjms.87.1.144 |
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ID登録タイプ |
JaLC |
| 関連情報 |
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|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
URI |
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|
関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/871.html |
| 収録物識別子 |
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|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0027-7622 |
| 収録物識別子 |
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|
収録物識別子タイプ |
EISSN |
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収録物識別子 |
2186-3326 |
| 書誌情報 |
en : Nagoya Journal of Medical Science
巻 87,
号 1,
p. 144-149,
発行日 2025-02
|
12_Watanabe.pdf (2.8 MB)
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