Attributes | Values |
---|
rdf:type
| |
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
| |
http://linked.open...avai/riv/aktivita
| |
http://linked.open...avai/riv/aktivity
| |
http://linked.open...iv/cisloPeriodika
| |
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
| |
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
| |
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
| |
http://linked.open...iv/tvurceVysledku
| - Plevová, Pavlína
- Křepelová, Anna
- Čuřík, Romuald
- Šilhánková, Eva
- Kasperčík, Ivo
|
http://linked.open...n/vavai/riv/zamer
| |
issn
| |
number of pages
| |
http://localhost/t...ganizacniJednotka
| |