Article
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
BMC medical genetics - 23 Jul 2014
Gatta Valentina, Palka Chiara, Chiavaroli Valentina, Franchi Sara, Cannataro Giovanni, Savastano Massimo, Cotroneo Antonio Raffaele, Chiarelli Francesco, Mohn Angelika, Stuppia Liborio
Abstract excerpt
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 region, with variable phenotype of the affected patients.Here, we report a SHOX gene analysis carried out by MLPA in 14...
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