A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

Abstract excerpt

Mowat-Wilson syndrome is a multiple congenital anomaly and intellectual disability syndrome characterized by a unique face and various other structural and functional anomalies. The condition is caused by de novo heterozygous mutations or deletions in ZEB2 gene located at 2q22. ZEB2 encodes Sip1 protein, which acts during central nervous system development as an important transcription factor. Herein, we report...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cohort Studies
• Share to Diagnosis, Differential
• Share to Face