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Article

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.

BMC neurology - 28 Apr 2021

Khalesi Raziyeh, Razmara Ehsan, Asgaritarghi Golareh, Tavasoli Ali Reza, Riazalhosseini Yasser, Auld Daniel, Garshasbi Masoud

Abstract excerpt

BACKGROUND: The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. CASE PRESENTATION: A 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dysmorphic features. After doing neuroimaging and clinical examinations, due to the heterogeneity of neurodevelopmental...

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Identifiers

PMID: 33910511
DOI: 10.1186/s12883-021-02204-w
PMCID: PMC8080372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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