This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial
features, developmental delay, learning difficulties, short stature, congenital heart disease …

FINANCIAL DISCLOSURE: Dr Romano is a consultant to both Genentech, Inc and Novo
Nordisk, Inc and also participates on the speaker's bureaus of both companies; Dr Dahlgren …

The intent of this review is to provide the clinician with a summary of what is currently known
about the contribution of genetics to the origin of congenital heart disease. Techniques are …

Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia,
short stature, cardiac defects, and skeletal malformations. We recently demonstrated that …

Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and
congenital heart defects. The incidence of NS is estimated to be between 1: 1000 and 1 …

RASopathies are a group of developmental multisystemic disorders caused by germline
mutations in genes encoding signal transducers and regulatory proteins functionally linked …

Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected
individuals have cardiovascular involvement, most prevalently various forms of congenital …