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Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly

Crossref DOI link: https://doi.org/10.1007/s11033-024-09728-7

Published Online: 2024-06-26

Published Print: 2024-12

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

Authors

Aslam, Komal

Saeed, Aysha

Saeed, Hafiza Iqra

Bashir, Rasheeda

Abid, Hanna

Akhtar, Roeha

Habib, Nida

Khan, Ramisha

Asif, Roha

Rafiq, Shereen

Asif, Maria

Makhdoom, Ehtisham Ul Haq

Hussain, Muhammad Sajid

Baig, Shahid Mahmood

Anjum, Iram https://orcid.org/0000-0002-9015-3179
Funding

Funding for this research was provided by:

Higher Education Commision, Pakistan (NRPU-5884)
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Text and Data Mining valid from 2024-06-26

Version of Record valid from 2024-06-26
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Article History

Received: 1 March 2024

Accepted: 14 June 2024

First Online: 26 June 2024

Declarations

:

: The authors declare no competing interests.

: The study was conducted according to the guidelines of the Declaration of Helsinki, and approved by the Ethical Review committee of Lahore College for Women University (No. REF/NO/LCWU/BIOT/304; Dated 03-05-2021).

: Written informed consent was obtained from the parents of the affected individuals of this family prior to the study.

: The authors affirm that human research participants and parents provided informed consent for the publication of all the data presented in this study including pictures, clinical information, and brain scan.

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