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Description
  • Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition.We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas.
  • Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition.We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas. (en)
  • Elejalde syndrom, také známý jako akrocefalopolydaktylická dysplazie, je vzácné onemocnění. Prezentujeme šestého popsaného pacienta s tímto onemocněním, které je charakterizováno kraniosynostózou a hyperproliferací fibroblastů ve tkáních včetně kůže, jater, ledviny a pankreatu. Podle naší hypotézy by toto onemocnění mohlo být způsobeno inaktivující mutací v genu pro FGF receptor. (cs)
Title
  • Clinical Report: Elejalde Syndrome - A Case Report
  • Clinical Report: Elejalde Syndrome - A Case Report (en)
  • Elejalde syndrom - kazuistika (cs)
skos:prefLabel
  • Clinical Report: Elejalde Syndrome - A Case Report
  • Clinical Report: Elejalde Syndrome - A Case Report (en)
  • Elejalde syndrom - kazuistika (cs)
skos:notation
  • RIV/61989592:15110/06:00003485!RIV07-MSM-15110___
http://linked.open.../vavai/riv/strany
  • 2223-2226
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM6198959216)
http://linked.open...iv/cisloPeriodika
  • 20
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 468888
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/06:00003485
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Elejalde syndrome; craniosynostosis-congenital; receptor; fibroblast growth factor; gene. (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [E723609BF602]
http://linked.open...i/riv/nazevZdroje
  • American Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 140A
http://linked.open...iv/tvurceVysledku
  • Plevová, Pavlína
  • Křepelová, Anna
  • Čuřík, Romuald
  • Šilhánková, Eva
  • Kasperčík, Ivo
http://linked.open...n/vavai/riv/zamer
issn
  • 1552-4825
number of pages
http://localhost/t...ganizacniJednotka
  • 15110
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