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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Year of publication

2023

Authors

de Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uirá S; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E L M
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Organizations and authors

University of Oulu

Mantere Tuomo

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

HGG advances

Publisher

Elsevier

Issue

3

Article number

100200

ISSN

2666-2477

​Publication forum

90144

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Fully open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Biomedicine

Keywords

[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

No

DOI

10.1016/j.xhgg.2023.100200

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

Yes