Birutė Burnytė

Incomplete Shone’s complex as a rare cardiac manifestation of Coffin–Lowry syndrome: a case report

Coffin-Lowry syndrome is a rare X-linked genetic disorder caused by pathogenic variants in the RPS6KA3 gene, characterized by distinctive craniofacial features, skeletal abnormalities, and neurodevelopmental impairment. Although cardiac involvement has been reported in Coffin-Low...