<i>CCDC149</i> : a novel gene associated with hypopituitarism and neurodevelopmental impairment

Abstract excerpt

OBJECTIVE & DESIGN: Congenital Hypopituitarism (CH) is a complex developmental disorder characterized by variable pituitary dysfunction that is often associated with midline structural abnormalities that affect the brain, eyes and face. To date, only ∼10%-15% of patients have an underlying molecular basis. METHODS: Next generation sequencing was conducted on a subset of CH patients with no known genetic...