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Article

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

Clinical genetics - 1 Feb 2026

Abdel-Hamid Mohamed S, ElKhayat Samer H, Abdel-Salam Ghada M H

Abstract excerpt

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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Source

Identifiers

PMID: 40993886
DOI: 10.1111/cge.70075

Genes

BORCS8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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