Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
Background: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. Case description...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-03-01
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| Series: | eNeurologicalSci |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405650218300534 |