Crossmark

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

Crossref DOI link: https://doi.org/10.1007/s00439-024-02718-6

Published Online: 2024-12-21

Published Print: 2025-01

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

Authors

Kakar, Naseebullah

Mascarenhas, Selinda

Ali, Asmat

Azmatullah,

Ijlal Haider, Syed M.

Badiger, Vaishnavi Ashok

Ghofrani, Mobina Shadman

Kruse, Nathalie

Hashmi, Sohana Nadeem

Pozojevic, Jelena

Balachandran, Saranya

Toft, Mathias

Malik, Sajid

Händler, Kristian

Fatima, Ambrin

Iqbal, Zafar

Shukla, Anju

Spielmann, Malte

Radhakrishnan, Periyasamy
Funding

Funding for this research was provided by:

Alexander von Humboldt Foundation, Germany (Fellowship)

ORIC, BUITEMS (Startup grants)

ICGEB grant (CRP/PAK21-05_EC)

Grant from the South-Eastern Norway Regional Health Authority

DBT/Wellcome Trust India Alliance for the study, “Centre for Rare Disease Diagnosis, Research and Training (IA/CRC/20/1/600002)

Universität zu Lübeck
License Information

Text and Data Mining valid from 2024-12-21

Version of Record valid from 2024-12-21
More Information

Article History

Received: 31 August 2024

Accepted: 27 November 2024

First Online: 21 December 2024

Declarations

:

: The authors have no conflict of interest to declare.

: Ethical approval for all the participants was obtained from the Institutional Review Board (IRB) of BUITEMS (IRB# 00010538), Quetta, Pakistan,” the “Institutional Ethics Committee of Kasturba Hospital, Manipal, India,” and the “Ethics Review Committee of the Aga Khan University Hospital, Karachi Pakistan (ERC: 2021-6514-19346), ensuring adherence to the principles of the Declaration of Helsinki.

: Informed consent was obtained from all individuals who participated in this study.

Document is current

Any future updates will be listed below