Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.

Annals of neurology - 1 Sept 1999

Inoue K, Tanabe Y, Lupski J R

Abstract excerpt

We describe an unique patient presenting with severe leukodystrophy compatible with Pelizaeus-Merzbacher disease and peripheral neuropathy consistent with Charcot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsprung syndrome. A novel mutation was identified in her SOX10 gene, which encodes a transcription factor preferentially expressed in the late embryonic glial cell lineage and in mature...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Central Nervous System
Share to DNA-Binding Proteins
Share to High Mobility Group Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Myelin Proteins

Share to Peripheral Nervous System

Share to SOXE Transcription Factors

Share to Transcription Factors

Source

Identifiers

PMID: 10482261
DOI: 10.1002/1531-8249(199909)46:3<313::aid-ana6>3.0.co;2-7

Genes

SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.PMID 10482261Read ↗

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.Semantic proximity Read ↗

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.Semantic proximity Read ↗

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Semantic proximity Read ↗

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.Semantic proximity Read ↗

SOX10 mutation with peripheral amyelination and developmental disturbance of axons.Semantic proximity Read ↗

Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage.Semantic proximity Read ↗

The role of SOX10 during enteric nervous system development.Semantic proximity Read ↗

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.Semantic proximity Read ↗

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.Semantic proximity Read ↗

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.Semantic proximity Read ↗

Hypomorphic Sox10 alleles reveal novel protein functions and unravel developmental differences in glial lineages.Semantic proximity Read ↗

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.