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- W3096232471 abstract "Coffin–Siris syndrome (CSS) is a rare congenital malformation syndrome. The disorder is caused by heterozygous mutations in several genes encoding components of the BRG1- and BRM-associated factor (BAF) complex, including ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11. Features of Coffin–Siris syndrome include variable degrees of intellectual disability (predominantly affecting speech), sucking/feeding difficulties, and craniofacial (thick eyebrows, long eyelashes), digital (hypoplastic fifth fingers or toes, and hypoplastic fifth fingernails or toenails), and other characteristics (sparse scalp hair, hypertrichosis). In addition to these cardinal features, phenotypic diversity dependent on the affected gene has been suggested. Careful assessment of development and behavior as well as early intervention, including physiotherapy, occupational therapy, and speech therapy, and evaluation for associated congenital defects comprise the major components of the management plan of CSS." @default.
- W3096232471 created "2020-11-09" @default.
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- W3096232471 date "2020-10-30" @default.
- W3096232471 modified "2023-10-12" @default.
- W3096232471 title "COFFIN–SIRIS SYNDROME" @default.
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- W3096232471 doi "https://doi.org/10.1002/9781119432692.ch13" @default.
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