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Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10329121" target="_blank" >RIV/00064165:_____/16:10329121 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/16:10329121 RIV/00216208:11130/16:10329121 RIV/00064203:_____/16:10329121

  • Result on the web

    <a href="http://dx.doi.org/10.1111/ceo.12783" target="_blank" >http://dx.doi.org/10.1111/ceo.12783</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1111/ceo.12783" target="_blank" >10.1111/ceo.12783</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

  • Original language description

    Mutations in FOXL2 are known to cause autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), variably associated with premature ovarian failure. In this study, we report results of mutational screening in a Czech and Slovak patient population with BPES.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2016

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Clinical and Experimental Ophthalmology

  • ISSN

    1442-6404

  • e-ISSN

  • Volume of the periodical

    44

  • Issue of the periodical within the volume

    9

  • Country of publishing house

    AU - AUSTRALIA

  • Number of pages

    6

  • Pages from-to

    757-762

  • UT code for WoS article

    000392711900003

  • EID of the result in the Scopus database

    2-s2.0-84978929433