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Coffin-Siris syndrome: Clinical description of two cases.

Nina HollanderGavin William Ten Tusscher
Published 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.
Keyphrases
  • case report
  • poor prognosis
  • dna methylation
  • transcription factor
  • binding protein