Latest Senior-Løken syndrome Stories
An international group of researchers has identified the genetic cause of an inherited condition that causes severe fetal abnormalities.
An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1).
In the September 1st issue of G&D, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases
The mystery of genetic disease is only partially solved with the identification of a mutated gene. Often, the pattern of disease â€“ the features or disorders associated with it â€“ vary in type and severity among those who are affected. Scientists, physicians and patients all ask why.
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