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

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

29 Feb 2012

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Congenital gastrointestinal and neural anomalies
Share to RNA regulation and disease

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22378281
DOI: 10.1038/ejhg.2012.29

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4PMID 22378281Read ↗

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IVSemantic proximity Read ↗

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseSemantic proximity Read ↗

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.Semantic proximity Read ↗

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.Semantic proximity Read ↗

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.Semantic proximity Read ↗

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.Semantic proximity Read ↗

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].Semantic proximity Read ↗

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung DiseaseSemantic proximity Read ↗

Understanding the role of SOX9 in acquired diseases: lessons from developmentSemantic proximity Read ↗

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