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

• Главные авторы: Daniel Ta (Автор), Jenny Downs (Автор), Gareth Baynam (Автор), Andrew Wilson (Автор), Peter Richmond (Автор), Aron Schmidt (Автор), Amelia Decker (Автор), Helen Leonard (Автор)
• Формат: ‌
• Опубликовано: MDPI AG, 2022-07-01T00:00:00Z.
• Предметы: article
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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...