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Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

27 Nov 2018

Abstract excerpt

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: A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated...

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PMID: 30555950
DOI: 10.1016/j.ensci.2018.11.021

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