What is achondroplasia? Achondroplasia is an autosomal dominant genetic disorder that causes dwarfism. This video discusses the pathophysiology, as well as important clinical signs and symptoms of achondroplasia. Subscribe – https://goo.gl/w5aaaV. More videos – https://goo.gl/UhOKiM. Support us on Patreon – https://goo.gl/ZGHEk4.
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Emery and Rimoin’s Principles and Practice of Medical Genetics – Sixth Edition
Genetics home reference – Achondroplasia (https://ghr.nlm.nih.gov/condition/achondroplasia)
Wikipedia – Various pages
Robbins and Cotran – Pathologic Basis of Disease – 7th Edition
Audio/visuals: Tanner Marshall, MS
Script: Philip M. Boone, MD, PHD
Reviewer: Rishi Desai, MD, MPH