A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of <i>AUTS2</i>

• 福島, 紘子

• 大戸, 達之

• 高田, 英俊

• Saeki, Saki

• Enokizono, Takashi

• Imagawa, Kazuo

• Kajikawa, Daigo

• Sakai, Aiko

• Tanaka, Mai

• Suzuki, Hisato

• Uehara, Tomoko

• Takenouchi, Toshiki

• Kenjiro, Kosaki

書誌事項

タイトル別名

• A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

抄録

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.

収録刊行物

• Clinical Case Reports

  Clinical Case Reports 7 (11), 2059-2063, 2019-11

  Wiley

キーワード

• General Medicine

詳細情報

• CRID: 1050565163352114176
• NII論文ID: 120007127802
• ISSN: 20500904
• DOI: 10.1002/ccr3.2377
• HANDLE: 2241/00159755
• Web Site: https://tsukuba.repo.nii.ac.jp/records/54332
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2377
• Web Site: https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.2377
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
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  • CiNii Articles
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