Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

Abstract excerpt

Pontocerebellar hypoplasias (PCHs) are a genetically and clinically heterogeneous group of autosomal recessive inherited neurodevelopmental disorders. In the past decade, whole-exome sequencing (WES) has led to the identification of new genes, allowing the recognition of at least 10 different PCH types with broad and overlapping phenotypes.1

Topics

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

• Share to Cancer-related molecular mechanisms research
• Share to Fetal and Pediatric Neurological Disorders
• Share to RNA modifications and cancer