Article

Genetic Findings of Sanger and Nanopore Single-Molecule Sequencing in Patients with X-Linked Hearing Loss and Incomplete Partition Type III

2021-05-13

Abstract excerpt

<title>Abstract</title> <p>Background<italic>POU3F4</italic> is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The aim of this study was to investigate the clinical characteristics and molecular findings by Sanger or Nanopore single-molecule sequencing in IP-III patients. MethodsDiagnosis of IP-III was mainly based on clin...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 42cf3e28-b48c-5a2f-a52f-79ae0a8f150d
DOI: 10.21203/rs.3.rs-501574/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic Findings of Sanger and Nanopore Single-Molecule Sequencing in Patients with X-Linked Hearing Loss and Incomplete Partition Type IIIDOI 10.21203/rs.3.rs-501574/v1Read

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.Semantic proximity Read

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.Semantic proximity Read

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Semantic proximity Read

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation.Semantic proximity Read

Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear MalformationsSemantic proximity Read

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.Semantic proximity Read

Research progress on incomplete partition type 3 inner ear malformation.Semantic proximity Read

Genotype and Outcomes of Cochlear Implantation in Children With Incomplete Partition Type III.Semantic proximity Read

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing LossSemantic proximity Read

Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.Semantic proximity Read

De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.Semantic proximity Read

Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.Semantic proximity Read