2019年11月
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.
Clinical case reports
- 巻
- 7
- 号
- 11
- 開始ページ
- 2059
- 終了ページ
- 2063
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1002/ccr3.2377
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.
- リンク情報
- ID情報
-
- DOI : 10.1002/ccr3.2377
- PubMed ID : 31788251
- PubMed Central 記事ID : PMC6878208