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Symptoms, causative genes, and what you need for diagnosis — by disease.
Episode 10: [Kabuki Syndrome] Everything About the “Chromatinopathy” That Affects the Face, Heart, Growth, and Immune System2026. 07. 03
Episode 9: [Sotos Syndrome] What If Your Child Is Unusually Large? Everything About the NSD1 Gene and Overgrowth Syndrome2026. 06. 12
What Is a Lymphatic Malformation? Causes, Inheritance, and Diagnosis2026. 06. 05
Episode 8: Lysosomal Storage Disorders (LSD) — Beyond Variant Interpretation2026. 05. 29
Could Your Patient’s Unexplained Joint Dislocations Be EDS? | EDS Awareness Month, May 2026 2026. 05. 14
Episode 7: Prader-Willi and Angelman Syndromes — Beyond the Variant 2026. 05. 14