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Article

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.

European journal of ophthalmology - 1 Sept 2022

Bayram Nurettin, Bayram Ayşe Kaçar, Per Hüseyin, Gümüş Hakan, Ozsaygili Cemal, Doğan Mehmet Said, Çağlayan Ahmet Okay

Abstract excerpt

PURPOSE: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (CRPPA) mutation in different clinical manifestations. CASE DESCRIPTION: We report a girl with a presentation of multiple...

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PMID: 33977792
DOI: 10.1177/11206721211016306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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