Often misdiagnosed as other conditions such as Rett syndrome or cerebral palsy, DDX3X mutations cause both cognitive and physical difficulties. Since only an estimated 700 patients have been diagnosed…
Growing up without a diagnosis is hard. In a world which frequents new scientific discoveries, you're still living as a medical mystery. When no one knows the answer, patients often…
Three years ago, a rare disease was spawned that made its way into the medical field. Over 100 people gathered in San Diego to research the disease within a new…
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