| Item type |
文献 / Documents(1) |
| 公開日 |
2021-03-17 |
| アクセス権 |
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|
アクセス権 |
open access |
| 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 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
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|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1159/000472408 |
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|
言語 |
ja |
|
|
関連名称 |
10.1159/000472408 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome : A Patient's View |
|
言語 |
en |
| タイトル別表記 |
|
|
その他のタイトル |
Barber-Say/Ablepharon-Macrostomia : Patient’s View |
|
言語 |
en |
| 著者 |
De Maria, Beatrice
de Jager, Tresia
Sarubbi, Caitlin
Bartsch, Oliver
Bianchi, Alberto
Brancati, Francesco
Chung, Hon-Yin B.
David, Albert
Kariminejad, Ariana
Foresti, Maura
Gallottini, Marina
Isidor, Bertrand
Marchegiani, Shannon
Martins, Fabiana
Mazzanti, Laura
Roche, Nathalie
Singh, Ankur
Stevens, Cathy
須賀, 健一
Zenker, Martin
Hennekam, Raoul C.
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves. |
|
言語 |
en |
| キーワード |
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|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Ablepharon-macrostomia syndrome |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Barber-Say syndrome |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Body satisfaction |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Patient perception |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Psychosocial functioning |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Quality of life |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Questionnaire study |
| 書誌情報 |
en : Molecular Syndromology
巻 8,
号 4,
p. 172-178,
発行日 2017-04-27
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
16618769 |
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
16618777 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12439426 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA1278383X |
| 出版者 |
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|
出版者 |
Karger |
|
言語 |
en |
| 権利情報 |
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|
言語 |
en |
|
権利情報 |
Th is article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes as well as any distribution of modifi ed material requires written permission. |
| EID |
|
|
識別子 |
330389 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
ms_8_4_172.pdf (219 KB)
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