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Article

Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.

Brain & development - 1 Mar 2021

Alharbi Sara, Alhashem Amal, Alkuraya Fowzan, Kashlan Fawaz, Tlili-Graiess Kalthoum

Abstract excerpt

BACKGROUND: Walker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling. We aim to describe genetic and neuroimaging findings of WWS and investigate the correlation between them. METHODS: We retrospectively reviewed...

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PMID: 33199158
DOI: 10.1016/j.braindev.2020.10.012

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