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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...

Topics

Female
Humans
Abnormalities, Multiple
Meningocele
Mutation
Phenotype
Receptor, Notch3
Adolescent

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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