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Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome

Year of publication

2023

Authors

Rahikkala, Elisa; Väisänen, Taneli; Ojala, Liisa; Pohjola, Pia; Toivonen, Minna; Parkkola, Riitta; Haanpää, Maria K

Organizations and authors

University of Oulu

Rahikkala Elisa Orcid -palvelun logo

University of Turku

Rahikkala Elisa

Haanpää Maria

Pohjola Pia

Väisänen Taneli

Parkkola Riitta

Ojala Liisa

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Review article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A2 Review article, Literature review, Systematic review

Publication channel information

Journal

Molecular syndromology

Publisher

Karger Publishers

ISSN

1661-8769

​Publication forum

76316

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

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]

Publication country

Switzerland

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

No

DOI

10.1159/000534772

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

Yes