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...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/8fc446d3d2d541438e35afb0700a2402 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|