ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases
BackgroundCoffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and phalanges. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, and...
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2022-06-01T00:00:00Z.
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