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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Year of publication

2019

Authors

Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Paivi; Nayebzadeh, Naemeh; Weiss, Simone; Plomp, Astrid S.; Bittner, Reginald E.; Kurki, Mitja I.; Kuismin, Outi; Lewis, Andrea M.; Väisänen, Marja-Leena; Kokkonen, Hannaleena; Westermann, Jonne; Bernert, Gunther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine
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Organizations and authors

University of Helsinki

Palotie Aarno

Moilanen Jukka

Aaltonen Lauri

Kurki Mitja I.

Kuismin Outi

University of Oulu

Väisänen Marja-Leena

Rahikkala Elisa Orcid -palvelun logo

Nayebzadeh Naemeh

Kuismin Outi Maria

Vieira Päivi Maria

Hinttala Reetta

Myllykoski Matti Aukusti

Karppinen Peppi Orcid -palvelun logo

Helsinki University Hospital Catchment Area

Palotie Aarno

Moilanen Jukka

Aaltonen Lauri

Kurki Mitja I.

Kuismin Outi

Oulu University Hospital Catchment Area

Kokkonen Hannaleena

Väisänen Marja-Leena

Rahikkala Elisa

Kuismin Outi

Vieira Päivi

Tuominen Hannu

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

Genetics in medicine

Parent publication name

Genetics In medicine

Volume

21

Issue

10

Pages

2355-2363

ISSN

1098-3600

​Publication forum

56522

​Publication forum level

2

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

Other license

Self-archived

Yes

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]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1038/s41436-019-0503-4

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

Yes