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- Title
Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability.
- Authors
Yamada, Mamiko; Yamaguchi, Yu; Uehara, Tomoko; Yagihashi, Tatsuhiko; Kosaki, Kenjiro
- Abstract
Marfan syndrome is characterized by a tall stature, scoliosis, pectus deformities, arachnodactyly, and a lean body habitus.1 Marfan syndrome is caused by mutations in the genes in the transforming growth factor pathway. Therefore, a different genetic disorder should be suspected in patients with features of Marfan syndrome presenting with intellectual disability. Herein, we report a patient who had features suggestive of Marfan syndrome who also had intellectual disability.
- Subjects
MARFAN syndrome; INTELLECTUAL disabilities; WECHSLER Adult Intelligence Scale
- Publication
Congenital Anomalies, 2021, Vol 61, Issue 1, p30
- ISSN
0914-3505
- Publication type
Article
- DOI
10.1111/cga.12393