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Description
  • Elejalde syndrom (McKusick 200995), známý také jako akrocefalopolydactylózní dysplázie, je vzácné onemocnění. Popisujeme šestého pacienta s tímto syndromem, jenž je charakterizován kraniosynostózou a hyperproliferací fibroblastů v mnoha tkáních včetně kůže, jater, ledvin a pankreatu. Příčina onemocnění není známa. Prezentujeme hypotézu, že Elejalde syndrom by mohl být důsledkem inaktivující mutace genu FGFR (cs)
  • 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. The cause of the syndrome is not known. We present a hypothesis that Elejalde syndrome might be associated with an inactivating FGFR gene mutation.
  • 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. The cause of the syndrome is not known. We present a hypothesis that Elejalde syndrome might be associated with an inactivating FGFR gene mutation. (en)
Title
  • Elejalde Syndrome - A Case Report
  • Elejalde syndrom - kazuistika (cs)
  • Elejalde Syndrome - A Case Report (en)
skos:prefLabel
  • Elejalde Syndrome - A Case Report
  • Elejalde syndrom - kazuistika (cs)
  • Elejalde Syndrome - A Case Report (en)
skos:notation
  • RIV/00843989:_____/06:00013350!RIV09-MSM-00843989
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
  • 473853
http://linked.open...ai/riv/idVysledku
  • RIV/00843989:_____/06:00013350
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Elejalde syndrome; craniosynostosis-congenita; receptor; fibroblast growth factor; gene (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [3241FCDC8594]
http://linked.open...i/riv/nazevZdroje
  • American Journal of Medical Genetics Part A
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
  • Šilhánová, Eva
  • Čuřík, Romuald
  • Křepelová, A.
  • Kasperčík, I.
http://linked.open...ain/vavai/riv/wos
  • 000241050900010
http://linked.open...n/vavai/riv/zamer
issn
  • 1552-4825
number of pages
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