Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome
Year of publication
2020
Authors
Hakonen, Anna H.; Lehtonen, Johanna; Kivirikko, Sirpa; Keski-Filppula, Riikka; Moilanen, Jukka; Kivisaari, Reetta; Almusa, Henrikki; Jakkula, Eveliina; Saarela, Janna; Avela, Kristiina; Aittomäki, Kristiina
Organizations and authors
Oulu University Hospital
Moilanen Jukka
Helsinki University Hospital
Hakonen Anna H.
Jakkula Eveliina
Almusa Henrikki
Saarela Janna
Lehtonen Johanna
Aittomäki Kristiina
Avela Kristiina
Kivisaari Reetta
Kivirikko Sirpa
University of Helsinki
Hakonen Anna H.
Jakkula Eveliina
Almusa Henrikki
Saarela Janna
Lehtonen Johanna
Aittomäki Kristiina
Avela Kristiina
Kivisaari Reetta
Kivirikko Sirpa
University of Oulu
Moilanen Jukka 
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Journal/Series
Parent publication name
Volume
182
Issue
11
Pages
2605-2610
ISSN
Publication forum
Publication forum level
1
Open access
Open access in the publisher’s service
No
Self-archived
No
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],[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
10.1002/ajmg.a.61836
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes