Episodio – Acondroplasia: mutación FGFR3 y herencia autosómica dominante | USMLE Step 1

from USMLE DREAMERS · host USMLE DREAMERS

Acondroplasia es la causa más frecuente de enanismo desproporcionado y un clásico de genética en el Step 1. En este episodio revisamos su fisiopatología, la mutación del FGFR3 (fibroblast growth factor receptor 3), las manifestaciones clínicas clave y su patrón de herencia autosómica dominante con penetrancia completa. Finalizamos con preguntas de integración para tu examen. #USMLE #Step1 #USMLEDreamers #Genetics #FGFR3 #Achondroplasia #AutosomalDominant #MedicalPodcast #MedEd #MIR #Enanismo #Chondrocytes #BoneGrowth

Episode metadata supplied by the publisher feed · Published Nov 18, 2025

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Episodio – Acondroplasia: mutación FGFR3 y herencia autosómica dominante | USMLE Step 1

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