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

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>

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

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

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

OECD FORD branch

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Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2016

Confidentiality

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

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