A novel variant of FGFR3 causes proportionate short stature
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00083441" target="_blank" >RIV/00216224:14110/15:00083441 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1530/EJE-14-0945" target="_blank" >http://dx.doi.org/10.1530/EJE-14-0945</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1530/EJE-14-0945" target="_blank" >10.1530/EJE-14-0945</a>
Alternative languages
Result language
angličtina
Original language name
A novel variant of FGFR3 causes proportionate short stature
Original language description
Objective: Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature. Testing for an FGFR3 mutationis currently not part of routine diagnostic testing in children with short stature without disproportion. Design: A three-generation family A with dominantly transmitted proportionate short stature was studied by whole-exome sequencing to identify the causal gene mutation. Functional studies and protein modeling studies were performed to confirm the pathogenicity of the mutation found in FGFR3. We performed Sanger sequencing in a second family B with dominant proportionate short stature and identified arare variant in FGFR3.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal od Endocrinology
ISSN
0804-4643
e-ISSN
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Volume of the periodical
172
Issue of the periodical within the volume
6
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
763-770
UT code for WoS article
000357212600020
EID of the result in the Scopus database
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