@article{oai:tsukuba.repo.nii.ac.jp:00054332, author = {福島, 紘子 and FUKUSHIMA, Hiroko and 大戸, 達之 and OHTO, Tatsuyuki and 高田, 英俊 and TAKADA, Hidetoshi and Saeki, Saki and Enokizono, Takashi and Imagawa, Kazuo and Kajikawa, Daigo and Sakai, Aiko and Tanaka, Mai and Suzuki, Hisato and Uehara, Tomoko and Takenouchi, Toshiki and Kenjiro, Kosaki}, issue = {11}, journal = {Clinical Case Reports}, month = {Nov}, note = {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.}, pages = {2059--2063}, title = {A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2}, volume = {7}, year = {2019}, yomi = {フクシマ, ヒロコ and オオト, タツユキ and タカダ, ヒデトシ} }