Search Results - "Atlas, Ilyas"
-
1
When the heart and hands tell a story: an intriguing case of Holt–Oram syndrome
Published in The Egyptian heart journal (02-09-2024)“…Background Holt–Oram syndrome is a rare genetic disorder caused by a mutation in the TBX5 gene, combining skeletal and cardiac malformations. Vital prognosis…”
Get full text
Journal Article -
2
Dilated cardiomyopathy revealing Refsum disease: a case report
Published in Journal of medical case reports (30-09-2024)“…Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is…”
Get full text
Journal Article