About: TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings     Goto   Sponge   NotDistinct   Permalink

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Description
  • We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Of total of 13 cutaneous lesions studied. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test.
  • We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Of total of 13 cutaneous lesions studied. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. (en)
Title
  • TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings
  • TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings (en)
skos:prefLabel
  • TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings
  • TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings (en)
skos:notation
  • RIV/00669806:_____/09:00202572!RIV10-MZ0-00669806
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • V
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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  • 347048
http://linked.open...ai/riv/idVysledku
  • RIV/00669806:_____/09:00202572
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • tuberous sclerosis complex; autosomal dominant polycystic kidney disease (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [0BB853A141DA]
http://linked.open...i/riv/nazevZdroje
  • American Journal of Dermatopathology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
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http://linked.open...v/svazekPeriodika
  • 31
http://linked.open...iv/tvurceVysledku
  • Kacerovská, Denisa
  • Kazakov, Dmitry
  • Kreuzberg, Boris
  • Michal, Michal
  • Pizinger, Karel
  • Vaněček, Tomáš
  • Říčařová, Renata
  • Reischig, Tomáš
  • Vodička, Radek
  • Vrtěl, Radek
  • Daniš, Dušan
http://linked.open...ain/vavai/riv/wos
  • 000268341900003
issn
  • 0193-1091
number of pages
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