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SAT-LB17 Triplication of SHOX Downstream Region in Mild Short Stature
Deletions of the downstream flanking regions of the SHOX gene that contain conserved non-coding cis-regulatory DNA elements are a known cause of Leri-Weill dyschondrosteosis or idiopathic short stature (ISS). Functional and comparative genomic studies have demonstrated the existence of four CNE enha...
Gardado en:
| Publicado en: | J Endocr Soc |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7209048/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2270 |
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