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Treatment with a JAK inhibitor was found to alleviate symptoms in the small study of patients with disabling pansclerotic morphea, a rare, severe inflammatory skin disorder, first described in 1923.
Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.
The Undiagnosed Diseases Network Foundation (UDNF) joins forces with patient advocacy organizations around the globe to shine a light on undiagnosed diseases.