Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature

FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopat...

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Main Authors: Mamada, Mitsukazu, Yorifuji, Tohru, Kurokawa, Keiji, Kawai, Masahiko, Momoi, Toru, Nakahata, Tatsutoshi
Format: Artigo
Jezik:Inglês
Izdano: The Japanese Society for Pediatric Endocrinology 2006
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Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4004848/
https://ncbi.nlm.nih.gov/pubmed/24790322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.15.61
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