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Article

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Jun 2023

Ullah Wahid, Ilyas Muhammad, Tariq Muhammad, Imdad Maria, Ullah Ikram, Efthymiou Stephanie, Faheem Muhammad, Abbas Muhammad, Aamir Muhammad, Nouman Muhammad, Houlden Henry

Abstract excerpt

BACKGROUND: Warburg Micro (WARBM) syndrome is a rare heterogeneous recessive genetic disorder characterized by ocular, neurological, and endocrine problems. To date, disease-causing variants in four genes have been identified to cause this syndrome; of these, RAB3GAP1 variants are the most frequent. Very little is known about WARBM syndrome in rural populations. OBJECTIVES: This study aims to investigate the...

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PMID: 37186309
DOI: 10.1002/jdn.10264

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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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