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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Detalles Bibliográficos
Autores principales: Mamada, Mitsukazu, Yorifuji, Tohru, Kurokawa, Keiji, Kawai, Masahiko, Momoi, Toru, Nakahata, Tatsutoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2006
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004848/
https://www.ncbi.nlm.nih.gov/pubmed/24790322
http://dx.doi.org/10.1297/cpe.15.61

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004848/
https://www.ncbi.nlm.nih.gov/pubmed/24790322
http://dx.doi.org/10.1297/cpe.15.61

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