Development of an International Database for a Rare Genetic Disorder: The <i>MECP2</i> Duplication Database (MDBase)

• Main Authors: Daniel Ta (Author), Jenny Downs (Author), Gareth Baynam (Author), Andrew Wilson (Author), Peter Richmond (Author), Aron Schmidt (Author), Amelia Decker (Author), Helen Leonard (Author)
• Format: Book
• Published: MDPI AG, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The natural history of <i>MECP2</i> duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the underst...