Noonan syndrome is a genetic disorder that affects one in 2,000 children. It is characterized by unusual facial characteristics, cardiac abnormalities, short stature, anomalies of certain blood and ...

A single mutation in the mouse genome -- within the K-Ras gene -- reproduces the main alterations found in humans of this rare syndrome, which include short stature, facial dysmorphia, cardiac ...

Noonan syndrome represents one of the most common dysmorphic disorders with an incidence between 1 in 1000 to 1 in 2500 live births. The most characteristic features of this syndrome are craniofacial ...

Two years ago, Maria, then 14, started feeling off. Her stomach hurt and she often experienced nausea. She was exhausted and looked really pale. Worried, her parents took her to the emergency room.

Scientists have unlocked the mystery of why new cases of the genetic disease Noonan syndrome are so common; a mutation that causes the disease disproportionately increases a normal father's production ...

Families living with Noonan Syndrome say there is a pressing need for more social support and awareness of the rare genetic condition. Loughborough University researchers have spoken with more than 60 ...

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A 10-year-old in New York City is celebrating after receiving an urgently needed heart transplant just days before her birthday. For all of her young life, Chi Chi Soto — who is being identified by ...

This image shows noonan syndrome reproduced in mice carrying the K-Ras gene mutation, including facial dysmorphia (right image), when compared to normal mice (left image). Disclaimer: AAAS and ...

This disease belongs to the group of RASopathies, which are developmental disorders caused by germline mutations in genes encoding particular proteins of the RAS/mitogen-activated protein kinase (MAPK ...