Coffin-Siris syndrome

Recommended panel testing at Breda Genetics for this condition: Coffin-Siris syndrome (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11) The fifth digit syndrome Coffin-Siris syndrome (also known as fifth digit syndrome) is a very rare genetic syndrome. Even though the condition is highly variable, the main hallmarks are abnormalities of the fifth finger, developmental disability […]

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