Coffin-Siris syndrome: Clinical description of two cases.
Nina HollanderGavin William Ten TusscherPublished in: Clinical case reports (2022)
Coffin-Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.