Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Year of publication

2020

Authors

Hietamäki, Johanna; Gregory, Louise C.; Ayoub, Sandy; Iivonen, Anna-Pauliina; Vaaralahti, Kirsi; Liu, Xiaonan; Brandstack, Nina; Buckton, Andrew J.; Laine, Tiina; Känsäkoski, Johanna; Hero, Matti; Miettinen, Päivi J.; Varjosalo, Markku; Wakeling, Emma; Dattani, Mehul T.; Raivio, Taneli

Organizations and authors

University of Helsinki

Iivonen Anna-Pauliina

Hietamäki Johanna

Känsäkoski Johanna

Vaaralahti Kirsi

Varjosalo Markku

Hero Matti

Brandstack Nina

Miettinen Päivi J.

Raivio Taneli

Laine Tiina

Liu Xiaonan

Helsinki University Hospital

Iivonen Anna-Pauliina

Hietamäki Johanna

Känsäkoski Johanna

Vaaralahti Kirsi

Varjosalo Markku

Hero Matti

Brandstack Nina

Miettinen Päivi J.

Raivio Taneli

Laine Tiina

Liu Xiaonan

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 clinical endocrinology and metabolism

Parent publication name

Journal of Clinical Endocrinology and Metabolism

Volume

105

Issue

Pages

1748-1758

ISSN

1945-7197

Publication forum

59896

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

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],[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

10.1210/clinem/dgaa078

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

Yes