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Symptoms, causative genes, and what you need for diagnosis — by disease.
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
Achondroplasia in Children: From the FGFR3 Mutation to Voxzogo, the First Targeted Therapy2026. 07. 24
Cloverleaf Skull: Is It Pfeiffer Syndrome Type 2?2026. 07. 22
Episode 11: [Rubinstein-Taybi Syndrome] Broad Thumbs, Developmental Delay, and Everything About “Transcriptional Disorders”2026. 07. 16