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Achondroplasia: Development, Pathogenesis, and Therapy

Autosomal dominant mutations in Fibroblast Growth Factor Receptor 3 (FGFR3) cause Achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include Hypochondroplasia (Hch), Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SA...

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Bibliografiske detaljer
Udgivet i:Dev Dyn
Main Authors: Ornitz, David M., Legeai-Mallet, Laurence
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5354942/
https://ncbi.nlm.nih.gov/pubmed/27987249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/dvdy.24479
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