Achondroplasia
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference171 articles.
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2. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia;Shiang;Cell,1994
3. Dwarfs in ancient Egypt;Kozma;Am J Med Genet A,2006
4. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995
5. The chondrodystrophies;Rimoin;Adv Hum Genet,1975
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1. Radiological characteristics of skeletal growth in neonates and infants with achondroplasia;American Journal of Medical Genetics Part A;2023-12-29
2. Archeohandi: protocol for a national disabilities database in archaeology in France;Virtual Archaeology Review;2023-12-05
3. Vosoritide, a miracle drug, covering unmet need in achondroplasia: A regulatory update;Intractable & Rare Diseases Research;2023-11-30
4. Cell-based screen identifies porphyrins as FGFR3 activity inhibitors with therapeutic potential for achondroplasia and cancer;JCI Insight;2023-11-22
5. Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial;eClinicalMedicine;2023-11
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