Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Abstract excerpt

Infantile Neuro axonal Dystrophy (INAD), is a rare inherited neurological disorder which affects nerve axons causing progressive loss of mental skills, muscular control and vision. The authors present a case of 5.8-y-old girl with INAD who was diagnosed after Next Generation Sequencing (NGS). She was born to a non-consanguineous couple and presented with hypotonia, developmental delay followed by neuroregression...

Topics

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

• Share to Child, Preschool
• Share to Group VI Phospholipases A2