Char's syndrome

Show Summary Details

Quick Reference

A developmental disorder in which there is a patent ductus arteriosus and unusual facial appearance caused by missense mutations in the gene for transcription factor AP-2β, acting in a dominant-negative manner. The effect seems to be largely on neural crest cells.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.