Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis

INTRODUCTION: the use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. CASE REPORT...

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Detalhes bibliográficos
Main Authors: Dello Russo, Claudio, Di Giacomo, Gianluca, Mesoraca, Alvaro, D’Emidio, Laura, Iaconianni, Paola, Minutolo, Elisa, Lippa, Assunta, Giorlandino, Claudio
Formato: Artigo
Idioma:Inglês
Publicado em: CIC Edizioni Internazionali 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4186999/
https://ncbi.nlm.nih.gov/pubmed/25332755
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