Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

BACKGROUND: Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Th...

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Detalles Bibliográficos
Autores principales: Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915031/
https://www.ncbi.nlm.nih.gov/pubmed/24451042
http://dx.doi.org/10.1186/1471-2350-15-14

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