Two novel mutations in XYLT2 cause spondyloocular syndrome

Year of publication

2017

Authors

Taylan, Fulya; Abali, Zehra Yavas; Jantti, Nina; Gunes, Nilay; Darendeliler, Feyza; Bas, Firdevs; Poyrazoglu, Sukran; Tamcelik, Nevbahar; Tuysuz, Beyhan; Makitie, Outi

Organizations and authors

University of Helsinki

Makitie Outi

Helsinki University Hospital

Makitie Outi

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

American journal of medical genetics. Part A

Parent publication name

American Journal of Medical Genetics, Part A

Volume

173

Issue

Pages

3195-3200

ISSN

1552-4833

Publication forum

50904

Publication forum level

Open access

Open access in the publisher’s service

Open access of publication channel

Partially open publication channel

Self-archived

Yes

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

DOI

10.1002/ajmg.a.38487

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes