News tagged with genetic syndromes

Chromosome 12 mutation linked to familial diarrhea

(HealthDay) -- An activating mutation in GUCY2C, encoding guanylate cyclase C (GC-C), is thought to cause a novel familial diarrhea syndrome seen in a Norwegian family, according to a study published online ...

Mar 22, 2012
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Studies uncover keys in sudden cardiac death

Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present. ...

Jan 17, 2012
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Gene discovered for Weaver syndrome

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 ...

Dec 15, 2011
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