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Statements

Subject Item
n2:RIV%2F00843989%3A_____%2F06%3A00013350%21RIV09-MSM-00843989
rdf:type
n11:Vysledek skos:Concept
dcterms: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. 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. 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
dcterms:title
Elejalde Syndrome - A Case Report Elejalde Syndrome - A Case Report Elejalde syndrom - kazuistika
skos:prefLabel
Elejalde Syndrome - A Case Report Elejalde syndrom - kazuistika Elejalde Syndrome - A Case Report
skos:notation
RIV/00843989:_____/06:00013350!RIV09-MSM-00843989
n3:aktivita
n16:Z
n3:aktivity
Z(MSM6198959216)
n3:cisloPeriodika
20
n3:dodaniDat
n9:2009
n3:domaciTvurceVysledku
n5:7356528 n5:7325746 n5:9289399
n3:druhVysledku
n10:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
473853
n3:idVysledku
RIV/00843989:_____/06:00013350
n3:jazykVysledku
n4:eng
n3:klicovaSlova
Elejalde syndrome; craniosynostosis-congenita; receptor; fibroblast growth factor; gene
n3:klicoveSlovo
n8:gene n8:Elejalde%20syndrome n8:fibroblast%20growth%20factor n8:craniosynostosis-congenita n8:receptor
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[3241FCDC8594]
n3:nazevZdroje
American Journal of Medical Genetics Part A
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n9:2006
n3:svazekPeriodika
140A
n3:tvurceVysledku
Kasperčík, I. Křepelová, A. Šilhánová, Eva Plevová, Pavlína Čuřík, Romuald
n3:wos
000241050900010
n3:zamer
n14:MSM6198959216
s:issn
1552-4825
s:numberOfPages
4