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Article

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Journal of genetic counseling - 1 Oct 2014

King Jessica E, Dexter Amy, Gadi Inder, Zvereff Val, Martin Meaghan, Bloom Miriam, Vanderver Adeline, Pizzino Amy, Schmidt Johanna L

Abstract excerpt

Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified an isolated deficiency of beta-galactosidase. Subsequently, homozygous missense mutations in the galactosidase, beta 1 (GLB1) gene on chromosome 3 were...

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Share to Gangliosidosis, GM1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24777551
DOI: 10.1007/s10897-014-9720-9

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.PMID 24777551Read ↗

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