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

[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Mar 2022

Gao Y, Li Z C, Ma X L, Gao Y Q, Xiao Y, Dai X, Ma J

Abstract excerpt

Objective: To analyze the clinical phenotype and screen the genetic mutations of hereditary deafness in three deaf families to clarify their molecular biology etiology. Methods: From January 2019 to January 2020, three deaf children and family members were collected for medical history, physical examination, audiology evaluation, electrocardiogram and cardiac color Doppler ultrasound, temporal bone CT...

Read the complete abstract on PubMed

Topics

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

Share to Deafness
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Mutation

Share to Phenotype

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 35325944
DOI: 10.3760/cma.j.cn15330-20210525-00294

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].PMID 35325944Read ↗

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.Semantic proximity Read ↗

[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].Semantic proximity Read ↗

[Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].Semantic proximity Read ↗

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.Semantic proximity Read ↗

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].Semantic proximity Read ↗

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].Semantic proximity Read ↗

[Comparison and interpretation of etiological diagnosis guidelines for genetic deafness between China and the United States].Semantic proximity Read ↗

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].Semantic proximity Read ↗

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