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rdf:type
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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)
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Title
| - Elejalde Syndrome - A Case Report
- Elejalde syndrom - kazuistika (cs)
- Elejalde Syndrome - A Case Report (en)
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skos:prefLabel
| - Elejalde Syndrome - A Case Report
- Elejalde syndrom - kazuistika (cs)
- Elejalde Syndrome - A Case Report (en)
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skos:notation
| - RIV/00843989:_____/06:00013350!RIV09-MSM-00843989
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00843989:_____/06:00013350
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - Elejalde syndrome; craniosynostosis-congenita; receptor; fibroblast growth factor; gene (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - American Journal of Medical Genetics Part A
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Plevová, Pavlína
- Šilhánová, Eva
- Čuřík, Romuald
- Křepelová, A.
- Kasperčík, I.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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