Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
Abstract Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group of intellectual dis...
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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | EN |
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BMC
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/8fc446d3d2d541438e35afb0700a2402 |
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