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News tagged with genetic syndromes


Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue

Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding ...

Genetics created May 09, 2013 | popularity not rated yet | comments 0

Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope

In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause – a genetic mutation that occurs before ...

Genetics created May 08, 2013 | popularity 5 / 5 (1) | comments 0

Study examines effects of genetic variants for infants with neonatal abstinence syndrome

Among infants with neonatal abstinence syndrome (NAS; caused by in utero opioid exposure), variants in certain genes were associated with a shorter length of hospital stay and less need for treatment, preliminary findings ...

Diseases, Conditions, Syndromes created Apr 30, 2013 | popularity not rated yet | comments 0

'Dark genome' is involved in Rett Syndrome

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding ...

Genetics created May 02, 2013 | popularity 3 / 5 (2) | comments 0