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- Title
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.
- Authors
Saeki, Saki; Enokizono, Takashi; Imagawa, Kazuo; Fukushima, Hiroko; Kajikawa, Daigo; Sakai, Aiko; Tanaka, Mai; Ohto, Tatsuyuki; Suzuki, Hisato; Uehara, Tomoko; Takenouchi, Toshiki; Kenjiro, Kosaki; Takada, Hidetoshi
- 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.
- Subjects
CLEFT lip; CLEFT palate; AUTISM spectrum disorders; VELOPHARYNGEAL insufficiency; AUTISTIC people
- Publication
Clinical Case Reports, 2019, Vol 7, Issue 11, p2059
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.2377