A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.

Abstract excerpt

Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit...

Topics

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• Hand Deformities, Congenital
• Abnormalities, Multiple
• DNA-Binding Proteins
• Face
• Frameshift Mutation