Latest Joubert syndrome Stories
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 1969.
A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.
Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.
The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders.
A new study in the September 6 issue of the Journal of Cell Biology (www.jcb.org) helps define the role of an important ciliary protein, CEP290.
Over 15 Million Children in America Are Estimated To Suffer From 7000 Unique Rare Diseases; Children Unite As 'Ambassadors of Hope' To Win $250K Pepsi Grant For The Global Genes Fund DANA POINT, Calif., Sept.
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).
- Having a loud voice; vociferous; clamorous.
- Of grand or imposing sound.