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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Crossref DOI link: https://doi.org/10.1186/s12881-018-0592-y

Published Online: 2018-05-08

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Elsayed, Liena E. O. http://orcid.org/0000-0001-5753-6760
Mohammed, Inaam N.

Hamed, Ahlam A. A.

Elseed, Maha A.

Salih, Mustafa A. M.

Yahia, Ashraf

Siddig, Rayan A.

Amin, Mutaz

Koko, Mahmoud

Elbashir, Mustafa I.

Ibrahim, Muntaser E.

Brice, Alexis

Ahmed, Ammar E.

Stevanin, Giovanni
Funding

Funding for this research was provided by:

Agence Nationale de la Recherche

Verum and Roger de Spoelberg Foundation
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Article History

Received: 20 September 2017

Accepted: 24 April 2018

First Online: 8 May 2018

Ethics approval and consent to participate

: This study was approved by the Paris Necker Ethics Committee (France) and the Ethical Committee of the University of Khartoum Medical Campus (Sudan). Written informed consent was obtained from each family member (or parents/legal guardians in case of minors) before participation in the study.

: All participants (or parents/legal guardians in case of minors) provided consent for the publication of their clinical details.

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.