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Article

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Clinical genetics - 1 May 2024

Woods Emily, Holmes Nicola, Albaba Shadi, Evans Iwan R, Balasubramanian Meena

Abstract excerpt

ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide. A comprehensive review of the literature was carried out. Abstracts were screened, relevant literature was analysed, and descriptions of common...

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PMID: 38420660
DOI: 10.1111/cge.14506

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ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.PMID 38420660Read ↗

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