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

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

American journal of medical genetics. Part A - 1 Dec 2008

Boulouiz Redouane, Li Yun, Soualhine Hafid, Abidi Omar, Chafik Abdelaziz, Nürnberg Gudrun, Becker Christian, Nürnberg Peter, Kubisch Christian, Wollnik Bernd, Barakat Abdelhamid

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 Amino Acid Substitution
Share to Frameshift Mutation
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Microfilament Proteins

Share to Morocco

Share to Mutation, Missense

Share to Vestibular Diseases

Source

Identifiers

PMID: 18973245
DOI: 10.1002/ajmg.a.32525

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.PMID 18973245Read ↗

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.Semantic proximity Read ↗

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.Semantic proximity Read ↗

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.Semantic proximity Read ↗

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.Semantic proximity Read ↗

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.Semantic proximity Read ↗

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.Semantic proximity Read ↗

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.Semantic proximity Read ↗

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.Semantic proximity Read ↗

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.Semantic proximity Read ↗

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg SyndromeSemantic proximity Read ↗

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Semantic proximity Read ↗

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