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

[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Sept 2020

Zhang Qiujing, Wu Kaiwen, Zhao Cui, Xie Linyi, Xiong Fen, Lan Lan, Wang Qiuju

Abstract excerpt

Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 33040498
DOI: 10.13201/j.issn.2096-7993.2020.09.003
PMCID: PMC10127724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].PMID 33040498Read ↗

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.Semantic proximity Read ↗

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.Semantic proximity Read ↗

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.Semantic proximity Read ↗

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.Semantic proximity Read ↗

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.Semantic proximity Read ↗

Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing.Semantic proximity Read ↗

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.Semantic proximity Read ↗

[Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss].Semantic proximity Read ↗

Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutationsSemantic proximity Read ↗

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