Congenital chloride diarrhea and Pendred syndrome:case report of siblings with two rare recessive disorders of SLC26 family genes

Year of publication

2020

Authors

Lindberg, Eva; Moller, Claes; Kere, Juha; Wedenoja, Satu; Anderzen-Carlsson, Agneta

Organizations and authors

University of Helsinki

Kere Juha

Wedenoja Satu

Helsinki University Hospital

Kere Juha

Wedenoja Satu

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

Bmc medical genetics

Parent publication name

BMC Medical Genetics

Volume

Issue

Article number

ISSN

1471-2350

Publication forum

52526

Publication forum level

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Fully open publication channel

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine

Keywords

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Publication country

United Kingdom

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

DOI

10.1186/s12881-020-01023-z

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

Yes