Latest Costello syndrome Stories

2011-12-15 17:41:24

New genetic testing confirms diagnosis in children with rare genetic disorder Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today in the American Journal of Human Genetics, the discovery means that testing the EZH2 gene for mutations could help families who are seeking a diagnosis for their child. "For the families...

2008-12-23 00:09:02

Japanese and Italian researchers have developed a new model of Costello Syndrome to investigate the link between the disorder and tumor formation. Costello Syndrome is an inherited developmental disorder that causes cardiac defects, mild mental retardation, and face-shape abnormalities, the publisher of Disease Models & Mechanisms said Monday in a release. The disorder is caused by mutations in a gene known as H-RAS. Cristina Santoriello and colleagues at the European Institute of...

2008-08-12 12:00:34

U.S. medical scientists say they have discovered a mutation that causes a childhood tumor syndrome also impairs growth hormone secretion. Washington University School of Medicine researchers said their discovery provides insights into a medical mystery: why patients with neurofibromatosis type 1 are frequently shorter than their peers. The researchers said the finding has led scientists to consider modifying their search for treatments for the inherited disorder, which is caused by a...

2005-12-02 11:21:37

Gene mutations in the HRAS sequence are present in most patients affected with Costello syndrome, according to a new study in the American Journal of Medical Genetics. The mutations occurred de novo in patients, meaning, they were not observed in their parents' genes. The study is published in the December issue of the journal, which is published by John Wiley & Sons. It is also available online via Wiley Interscience (www.interscience.wiley.com). Costello Syndrome is very rare, with...

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