• genetic
  • Cowden syndrome is an autosomal dominant genetic disorder characterised by multiple benign hamartomas (trichilemmomas and mucocutaneous papillomatous papules) as well as a predisposition for cancers of multiple organs including the breast and thyroid. (wikipedia.org)
  • The details of the genetic bases of these syndromes are unfolding. (wikipedia.org)
  • In absence of the possibility of genetic tests, the exact cause of Merrick's deformities has long been unclear, so that throughout much of the 20th century it was speculated that Merrick had been affected by other neurological syndromes. (wikipedia.org)
  • National Human Gen
  • The Proteus syndrome research team in the National Human Genome Research Institute at the United States National Institutes of Health have initiated a Phase 0 dose finding trial with the AKT1 inhibitor ARQ 092, which is being developed by the Arqule Corporation. (wikipedia.org)
  • higher
  • The disorder itself does not uniformly cause learning impairments: the distribution of intelligence deficits among sufferers of Proteus syndrome appears higher than that of the general population, although this is difficult to determine with statistical significance. (wikipedia.org)
  • found
  • A team of doctors in Australia have trial tested the drug rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy. (wikipedia.org)
  • known
  • His post-graduate training included a fellowship in pathology and medical genetics with Robert Gorlin (1923-2006), an oral pathologist and geneticist who described a large number of syndromes, including one they delineated together known as Gorlin-Cohen syndrome. (wikipedia.org)
  • Cases
  • Because of carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms - as is the case for Mandy Sellars, a woman who has been diagnosed with a form of Proteus syndrome (but see "Notable Cases" below). (wikipedia.org)