Dutta AK. Variable expressivity of Malan syndrome. BMJ Case Reports CP 2024;17:e260787.

This case report has been retracted due to unclear pathogenicity of the reported genomic variant. The authors described a firm diagnosis of Malan syndrome based on the molecular testing. However, the variant identified is also found in some individuals in genome databases. The molecular evidence for Malan syndrome in this case report is inadequate, and therefore the diagnosis is not firmly established. The variant was originally reported as likely pathogenic by the diagnostic laboratory. This interpretation was based on incomplete information.