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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3915031/
https://ncbi.nlm.nih.gov/pubmed/24451042
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-14
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