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Coffin-Siris syndrome: Clinical description of two cases
Nina Hollander1, Gavin William Ten Tusscher1,2
1Department of Pediatrics and Neonatology Dijklander Hospital Hoorn The Netherlands.
Abstract:
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.
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