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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Dello Russo, Claudio, Di Giacomo, Gianluca, Mesoraca, Alvaro, D’Emidio, Laura, Iaconianni, Paola, Minutolo, Elisa, Lippa, Assunta, Giorlandino, Claudio
Format: Artigo
Langue:Inglês
Publié: CIC Edizioni Internazionali 2014
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4186999/
https://ncbi.nlm.nih.gov/pubmed/25332755
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