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Symptoms, causative genes, and what you need for diagnosis — by disease.
Sudden Death in Healthy Adults: Why a “Normal” Genetic Test Doesn’t Mean You’re Safe from Brugada Syndrome2026. 08. 14
Legius Syndrome: The NF1 Mimic Hiding in Café-au-Lait Macules2026. 08. 14
Sick Sinus Syndrome: Genetics, Incidence, and Clinical Clues2026. 08. 09
Episode 12: Marfan Syndrome — Why Does a Single FBN1 Variant Cause Systemic Disease?2026. 08. 07
Apert Syndrome: FGFR2 Mutations and Molecular Diagnosis2026. 07. 28
Hypochondroplasia vs. Achondroplasia: What Distinguishes Them2026. 07. 27