ePrints

‘No causative variants found’: an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing

Lookup NU author(s): Dr Anna BasuORCiD, Dr Laura Yates

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Wells P, Basu AP, Yates LM

Publication type: Article

Publication status: Published

Journal: BMJ Case Reports

Year: 2025

Volume: 18

Issue: 1

Online publication date: 21/01/2025

Acceptance date: 30/12/2024

Date deposited: 22/01/2025

ISSN (electronic): 1757-790X

Publisher: BMJ Group

URL: https://doi.org/10.1136/bcr-2024-263723

DOI: 10.1136/bcr-2024-263723

ePrints DOI: 10.57711/ddrq-d920

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