期刊
HUMAN GENOME VARIATION
卷 7, 期 1, 页码 -出版社
SPRINGERNATURE
DOI: 10.1038/s41439-020-0102-6
关键词
-
资金
- Ministry of Health, Labour, and Welfare, Japan
- Intramural Research Grant for Neurological and Psychiatric Disorders of National Center of Neurology and Psychiatry (NCNP) [24-8]
- CREST, Japan Science and Technology Agency
Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.
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