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Article

Glyc-O-genetics of Walker-Warburg syndrome.

Clinical genetics - 1 Apr 2005

van Reeuwijk J, Brunner H G, van Bokhoven H

Abstract excerpt

Walker-Warburg syndrome (WWS) is the most severe of a group of multiple congenital anomaly disorders known as the cobblestone lissencephalies. These are characterized by congenital muscular dystrophy in conjunction with severe brain malformation and ocular abnormalities. In the last 3 years, impo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15733261
DOI: 10.1111/j.1399-0004.2004.00368.x

Genes

FKRP
POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15733261-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Glyc-O-genetics of Walker-Warburg syndrome.PMID 15733261Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

Walker-Warburg syndrome.Semantic proximity Read ↗

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.Semantic proximity Read ↗

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.Semantic proximity Read ↗

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.Semantic proximity Read ↗

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.Semantic proximity Read ↗

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.Semantic proximity Read ↗

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersSemantic proximity Read ↗

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.Semantic proximity Read ↗

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.Semantic proximity Read ↗

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.Semantic proximity Read ↗

Journey into muscular dystrophies caused by abnormal glycosylation.Semantic proximity Read ↗

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