Media Center

Girisha, Katta Mohan et al. Clinical Genetics.

Girisha, Katta Mohan et al. Clinical Genetics. 2016 Feb

Katta Mohan Girisha and colleagues conduct a whole exome sequencing on a child with a clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). They identified a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the likely cause of the children’s condition. This is the first report of a human disease associated with IFT52.

What they say
about Alamut

"We were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."

Paris, France