Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by different behavioral manifestations, including impairments in social communication, as ...

TABLE 1. MECP2 related phenotypes published in the literature. There is great potential for gene-based therapies in neurogenetic disorders. A few genetic disorders (e.g., spinal muscular atrophy and ...

Frontonasal dysplasia is a condition that causes a cleft in a patient’s nose and abnormal widening between the eyes (hypertelorism). Craniofrontonasal dysplasia is a similar condition that causes the ...

Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison ...