Article
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
BMC medical genetics - 23 Jan 2014
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
Abstract excerpt
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. This group of related disorders, so-called RASopathies, is caused by germline mutations in distinct genes encoding for...
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