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Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy:A case report

Year of publication

2022

Authors

Spagnoli, Carlotta; Salerno, Grazia G.; Rizzi, Susanna; Frattini, Daniele; Koskenvuo, Juha; Fusco, Carlo

Organizations and authors

Helsinki University Hospital Catchment Area

Koskenvuo Juha

University of Helsinki

Koskenvuo Juha

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

American journal of medical genetics. Part A

Parent publication name

American Journal of Medical Genetics, Part A

Volume

188

Issue

10

Pages

3118-3120

ISSN

1552-4833

​Publication forum

50904

​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]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

Yes

DOI

10.1002/ajmg.a.62902

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

Yes