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Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide
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Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

by Susan Murphy, Mayo Clinic Individuals with KCNK9 imprinting syndrome. A KCNK9 coding exons showing all variants by predicted protein change using ProteinPaint (St. Jude Children’s Research Hospital). The number in the circle represents the number of families described with the variant, no number = 1 family. Previously published variants are gray. B TASK3 protein topology schematic...