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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Bibliografiske detaljer
Main Authors: Seki, Atsuhito, Jinno, Tomoko, Suzuki, Erina, Takayama, Shinichiro, Ogata, Tsutomu, Fukami, Maki
Format: Artigo
Sprog:Inglês
Udgivet: The Japanese Society for Pediatric Endocrinology 2014
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125598/
https://ncbi.nlm.nih.gov/pubmed/25110390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.23.65
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