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

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2006

Verheij Johanna B G M, Sival Deborah A, van der Hoeven Johannes H, Vos Yvonne J, Meiners Linda C, Brouwer Oebele F, van Essen Anthonie J

Abstract excerpt

Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically...

Read the complete abstract on PubMed

Topics

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

Share to Demyelinating Diseases
Share to Growth

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High Mobility Group Proteins

Share to Hirschsprung Disease

Share to Neural Conduction

Share to Neurologic Examination

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 16504559
DOI: 10.1016/j.ejpn.2005.10.004

Genes

SOX10
EDNRB

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

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.PMID 16504559Read ↗

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

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.Semantic proximity Read ↗

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

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.Semantic proximity Read ↗

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.Semantic proximity Read ↗

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.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 ↗

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

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype AnalysisSemantic proximity Read ↗

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndromeSemantic proximity Read ↗

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

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.Semantic proximity Read ↗

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