News tagged with genetic syndromes

Genetic cause for CLOVES syndrome identified

Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital ...

May 31, 2012
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Discovery of a gene that causes Joubert Syndrome

C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in ...

May 10, 2012
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Bed-sharing, smoking play role in sudden infant death

(HealthDay) -- Although the rate of Sudden Infant Death Syndrome (SIDS) dropped by more than 50 percent following the start of a U.S. campaign encouraging parents to put babies to sleep on their backs, new ...

Mar 26, 2012
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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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