Journal
CLINICAL CASE REPORTS
Volume 7, Issue 11, Pages 2059-2063Publisher
WILEY
DOI: 10.1002/ccr3.2377
Keywords
autism spectrum disorder; AUTS2; cleft lip and palate; exon 8
Categories
Funding
- Japan Agency for Medical Research and the Development
- Research on Rare and Intractable Diseases
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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.
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