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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...

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Detalles Bibliográficos
Autores principales:	Bunyan, David J, Gevers, Evelien F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209048/ http://dx.doi.org/10.1210/jendso/bvaa046.2270

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