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impe0096p104 | Growth and Syndromes | IMPE2023

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

Barbara Casali , Paula Scaglia , Azcoiti María Esnaola , Débora Braslavsky , Nora Sanguineti , Romina Armando , Florencia Villegas , Ana Keselman , Analia Freire , Romina Grinspon , Mariana Vilas , Sandra Rosental , Claudia Arberas , Ignacio Bergadá , Gabriela Ropelato

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...

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Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

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