Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

BACKGROUND: SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding regi...

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Detalles Bibliográficos
Autores principales: Gatta, Valentina, Palka, Chiara, Chiavaroli, Valentina, Franchi, Sara, Cannataro, Giovanni, Savastano, Massimo, Cotroneo, Antonio Raffaele, Chiarelli, Francesco, Mohn, Angelika, Stuppia, Liborio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112833/
https://www.ncbi.nlm.nih.gov/pubmed/25056248
http://dx.doi.org/10.1186/1471-2350-15-87

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