The KCNQ gene family encodes potassium channel proteins, which are essential for the transport of potassium ions across the cell membrane. It comprises five genes, and mutations in four of these [...]
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 [...]
