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Article

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

American journal of medical genetics. Part A - 1 Sept 2025

Woods Emily, Jordaan C, Offiah Amaka C, Johnston J, Cole A A, Fernandes J A, Johnson Diana S

Abstract excerpt

Lateral meningocele syndrome is a rare skeletal syndrome caused by truncating variants in the final exon of the NOTCH3 gene. It is characterized by multiple lateral meningoceles that may result in neurological sequelae. A wider systemic phenotype has been demonstrated, including musculoskeletal abnormalities, feeding difficulties, structural cardiac and renal anomalies, and facial dysmorphism. We describe the...

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Source

Identifiers

PMID: 40256810
DOI: 10.1002/ajmg.a.64091

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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