Skeletal Deformity Associated with SHOX Deficiency

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature...

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Detalles Bibliográficos
Autores principales: Seki, Atsuhito, Jinno, Tomoko, Suzuki, Erina, Takayama, Shinichiro, Ogata, Tsutomu, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125598/
https://www.ncbi.nlm.nih.gov/pubmed/25110390
http://dx.doi.org/10.1297/cpe.23.65

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125598/
https://www.ncbi.nlm.nih.gov/pubmed/25110390
http://dx.doi.org/10.1297/cpe.23.65

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