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A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2
http://hdl.handle.net/2241/00159755
http://hdl.handle.net/2241/00159755acae28fc-1e7d-4bf5-8d25-317a591a0db0
名前 / ファイル | ライセンス | アクション |
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CCR_7-11 (266.2 kB)
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Item type | Journal Article(1) | |||||||||||||||||
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公開日 | 2020-03-17 | |||||||||||||||||
タイトル | ||||||||||||||||||
言語 | en | |||||||||||||||||
タイトル | A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2 | |||||||||||||||||
言語 | ||||||||||||||||||
言語 | eng | |||||||||||||||||
資源タイプ | ||||||||||||||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||
タイプ | journal article | |||||||||||||||||
著者 |
福島, 紘子
× 福島, 紘子
WEKO
204746
× 大戸, 達之× 高田, 英俊
WEKO
204463
× Saeki, Saki× Enokizono, Takashi× Imagawa, Kazuo× Kajikawa, Daigo× Sakai, Aiko× Tanaka, Mai× Suzuki, Hisato× Uehara, Tomoko× Takenouchi, Toshiki× Kenjiro, Kosaki |
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抄録 | ||||||||||||||||||
内容記述タイプ | Abstract | |||||||||||||||||
内容記述 | We report a patient with autism and cleft lip and palate carrying a de novo heterozygous AUTS2 mutation, c.1464_1467del ACTC (p.Tyr488*). Although the causal relationship between cleft lip and palate and this mutation is unclear, this case report may expand the clinical phenotype of AUTS2 syndrome. | |||||||||||||||||
書誌情報 |
en : Clinical Case Reports 巻 7, 号 11, p. 2059-2063, 発行日 2019-11 |
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ISSN | ||||||||||||||||||
収録物識別子タイプ | ISSN | |||||||||||||||||
収録物識別子 | 2050-0904 | |||||||||||||||||
PubMed番号 | ||||||||||||||||||
識別子タイプ | PMID | |||||||||||||||||
関連識別子 | 31788251 | |||||||||||||||||
DOI | ||||||||||||||||||
識別子タイプ | DOI | |||||||||||||||||
関連識別子 | 10.1002/ccr3.2377 | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. | |||||||||||||||||
著者版フラグ | ||||||||||||||||||
値 | publisher | |||||||||||||||||
出版者 | ||||||||||||||||||
出版者 | Wiley |