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Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285558" target="_blank" >RIV/00216208:11110/14:10285558 - isvavai.cz</a>

  • Result on the web

    <a href="http://dx.doi.org/10.3109/13816810.2013.811272" target="_blank" >http://dx.doi.org/10.3109/13816810.2013.811272</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3109/13816810.2013.811272" target="_blank" >10.3109/13816810.2013.811272</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA

  • Original language description

    We describe, for the first time, a proband with cornea plana who has compound heterozygous mutations in KERA. In addition to typical cornea plana features we have also documented corneal endothelial abnormalities in our patient. Our study therefore supports the previously suggested hypothesis that endothelial changes may be part of the cornea plana phenotype.

  • 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

    S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2014

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Ophthalmic Genetics

  • ISSN

    1381-6810

  • e-ISSN

  • Volume of the periodical

    35

  • Issue of the periodical within the volume

    4

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    3

  • Pages from-to

    252-254

  • UT code for WoS article

    000345213900008

  • EID of the result in the Scopus database