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Article

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Neurogenetics - 1 Nov 2013

Shaheen Ranad, Faqeih Eissa, Ansari Shinu, Alkuraya Fowzan S

Abstract excerpt

Walker-Warburg syndrome (WWS) is a genetically heterogeneous form of congenital muscular dystrophy with significant brain and ocular involvement. In a multiplex consanguineous family with severe WWS phenotype, autozygome-guided sequencing of previously reported WWS genes was negative. Exome sequencing followed by autozygome filtration revealed a homozygous two-base pair insertion in B3GNT1...

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PMID: 23877401
DOI: 10.1007/s10048-013-0367-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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