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(elephant man disease)
783 results
  • A mouse model of Proteus syndrome. [Journal Article]
  • HMHum Mol Genet 2019 Jun 13
  • Lindhurst MJ, Brinster LR, … Biesecker LG
  • Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G>A p.(E17K) in AKT1. The presentation in affected individuals is variable, with a diversity o…
  • [Syndromes with vascular skin anomalies]. [Review]
  • HHautarzt 2019; 70(7):474-480
  • Happle R
  • CONCLUSIONS: A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case.
  • Purple urine bag syndrome. [Journal Article]
  • TNTidsskr Nor Laegeforen 2019 Mar 26; 139(6)
  • Vikse J, Sæverås MZ, … Gøransson LG
  • Purple urine bag syndrome (PUBS) can occur in cases of bacteriuria with species expressing enzymes capable of converting tryptophan metabolites to red and blue pigments which are excreted in urine, l…
  • What's New in Genetic Skin Diseases. [Review]
  • DCDermatol Clin 2019; 37(2):229-239
  • Hill CR, Theos A
  • The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved und…
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