Spondyloocular Syndrome:Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Year of publication

2016

Authors

Taylan, Fulya; Costantini, Alice; Coles, Nicole; Pekkinen, Minna; Heon, Elise; Siklar, Zeynep; Berberoglu, Merih; Kampe, Anders; Kiykim, Ertugrul; Grigelioniene, Giedre; 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

Journal of bone and mineral research

Parent publication name

Journal of Bone and Mineral Research

Volume

Issue

Pages

1577-1585

ISSN

1523-4681

Publication forum

59766

Publication forum level

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

Self-archived

Other information

Fields of science

General medicine, internal medicine and other clinical medicine; Gynaecology and paediatrics

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[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/jbmr.2834

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

Yes