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In a collaborative study, researchers at the Departments of Urology and Experimental Endocrinology, the Institute of Pathology and the Institute of Human Genetics of the University Medical Center [...]

CAGSSS stands for a syndrome presenting with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss and skeletal dysplasia. It is a very rare disorder for which so [...]

Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous [...]

A plethora of factors act together in the cell to ensure that DNA is correctly duplicated and distributed to daughter cells during cell division. Scientists have now uncovered a new factor [...]

It is an extremely rare congenital disease with a very striking appearance: When children are born with no nose or with incompletely developed nasal structures, they have a condition called [...]