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Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

Year of publication

2021

Authors

Ain, Noor U.; Muhammad, Niaz; Dianatpour, Mehdi; Baroncelli, Marta; Iqbal, Muddassar; Fard, Mohammad A. F.; Bukhari, Ihtisham; Ahmed, Sufian; Hajipour, Massoumeh; Tabatabaie, Zahra; Foroutan, Hamidreza; Nilsson, Ola; Faghihi, Mohammad A.; Makitie, Outi; Naz, Sadaf
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Organizations and authors

University of Helsinki

Makitie Outi

Helsinki University Hospital Catchment Area

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

Human mutation

Parent publication name

Human mutation

Volume

42

Issue

1

Pages

89-101

ISSN

1059-7794

​Publication forum

57255

​Publication forum level

2

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Genetics, developmental biology, physiology

Keywords

[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/humu.24139

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

Yes