Bone, skin & immune
Genetic testing for inherited bone, skin or immune diseases provides rapid and comprehensive information to aid the diagnosis of these conditions. Early diagnosis opens up the possibilities for selecting optimal treatments and in addition prediction of disease progression.
Articles on bone, skin & immune
Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes…
CentoWebinar on demand - A race against the clock - Diagnosing genetic conditions in newborns and children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
CentoWebinar on demand - CentoICU®: NGS panels for the early and fast diagnosis of critically ill newborns & children under 24 months
Genetic disorders are diseases with the most complex presentation of the most diverse symptoms and also the most severe disease courses. A precise diagnosis of the underlying condition is especially important in serious and life threatening situations as found in the intensive care setting.
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this…