Mutations of the CD55 gene have been identified by an international group of scientists as the cause of a new autosomal recessively inherited syndrome consisting of early-onset protein-losing [...]
YY1 encodes the yin and yang 1 protein, a well-known zinc-finger transcription factor, whose name reflects its dual function: it has both activating and repressing effects on the transcription of [...]
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, [...]
Delayed sleep phase disorder (DSPD) is a common sleep disorder in which a person’s sleep/wake cycle is shifted beyond the usual or typically considered normal rhythm. Affected people are “night [...]
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 [...]
Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very [...]
