Cerebrovascular diseases in two patients with entire NSD1 deletion.
2021
We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
9
References
0
Citations
NaN
KQI