A Further Case Supporting <i>BORCS8</i> as a Cause of an Infantile‐Onset Neurodegenerative Disorder

We describe a new patient with the recently described BORCS8-related neurodevelopmental disorder. The clinical and brain imaging features are similar to the previous report and reinforce BORCS8 as a molecule fundamental to normal human development.

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Publication Details

Journal
Clinical Genetics
Published
2025-09-24
DOI
https://doi.org/10.1111/cge.70075
Primary Topic
RNA regulation and disease
Type
article
Field-Weighted Citation Impact
0.00
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article

A Further Case Supporting BORCS8 as a Cause of an Infantile‐Onset Neurodegenerative Disorder

Ghada M. H. Abdel‐Salam, Samer H. ElKhayat, Mohamed S. Abdel‐Hamid
Clinical Genetics
RNA regulation and disease
article

A Further Case Supporting BORCS8 as a Cause of an Infantile‐Onset Neurodegenerative Disorder

Ghada M. H. Abdel‐Salam, Samer H. ElKhayat, Mohamed S. Abdel‐Hamid
article en

Abstract

We describe a new patient with the recently described BORCS8-related neurodevelopmental disorder. The clinical and brain imaging features are similar to the previous report and reinforce BORCS8 as a molecule fundamental to normal human development.

Clinical GeneticsVol. 109(2)
Ain Shams University (EG), Agricultural Genetic Engineering Research Institute (EG), National Research Centre (EG)
Openalex Percentile: Top 77%
RNA regulation and disease
DOISourceOpenAlex
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A Further Case Supporting <i>BORCS8</i> as a Cause of an Infantile‐Onset Neurodegenerative Disorder — Ghada M. H. Abdel‐Salam, Samer H. ElKhayat, et al. · Clinical Genetics (2025) | TGRS Research Map | TGRS