Latest Meckel syndrome Stories
Primary cilia are hair-like structures which protrude from almost all mammalian cells.
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.
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.
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.
By Paetau, Anders Honkala, Heli; Salonen, Riitta; Ignatius, Jaakko; Kestila, Marjo; Herva, Riitta Abstract Hydrolethalus syndrome is a lethal malformation syndrome with a severe brain malformation, most often hydrocephaly and absent midline structures.
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