Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Year of publication

2022

Authors

Reilly, Madeline Louise; ul Ain, Noor; Muurinen, Mari; Tata, Alice; Huber, Celine; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Hogler, Wolfgang; Knapen, Maarten F. C. M.; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier-Daire, Valerie; Benmerah, Alexandre; Mäkitie, Outi

Organizations and authors

University of Helsinki

Muurinen Mari

Pekkinen Minna

Mäkitie Outi

Helsinki University Hospital

Muurinen Mari

Pekkinen Minna

Mäkitie 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

1642-1652

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

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

General medicine, internal medicine and other clinical medicine

Keywords

[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.4639

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

Yes