Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
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DOI: 10.1016/j.ensci.2018.11.021
Abstract: 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… read more here.
Keywords: case; coffin siris; coffin; siris syndrome ... See more keywords