@article{1e897201e0294630b63bf3b895f74c10,
title = "A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2",
abstract = "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.",
keywords = "AUTS2, autism spectrum disorder, cleft lip and palate, exon 8",
author = "Saki Saeki and Takashi Enokizono and Kazuo Imagawa and Hiroko Fukushima and Daigo Kajikawa and Aiko Sakai and Mai Tanaka and Tatsuyuki Ohto and Hisato Suzuki and Tomoko Uehara and Toshiki Takenouchi and Kosaki Kenjiro and Hidetoshi Takada",
note = "Funding Information: We would like to express our gratitude to the patient and his family. This study was supported by the Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and the Development and Research on Rare and Intractable Diseases from the Ministry of Health, Labor and Welfare, Japan. We would like to thank Editage ( www.editage.jp ) for English language editing. Funding Information: We would like to express our gratitude to the patient and his family. This study was supported by the Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and the Development and Research on Rare and Intractable Diseases from the Ministry of Health, Labor and Welfare, Japan. We would like to thank Editage (www.editage.jp) for English language editing. Publisher Copyright: {\textcopyright} 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2019",
month = nov,
day = "1",
doi = "10.1002/ccr3.2377",
language = "English",
volume = "7",
pages = "2059--2063",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "11",
}