Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing l...
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
About this item
Full title
Author / Creator
Publisher
Singapore: Springer Nature Singapore
Journal title
Language
English
Formats
Publication information
Publisher
Singapore: Springer Nature Singapore
Subjects
More information
Scope and Contents
Contents
Background
Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. DFNB genes are very diverse in their types and functions, making molecular diagnosis difficult. DFNB is particularly frequent in Pakistan, which may be partly due to consanguinity.
Alternative Titles
Full title
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10122349
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10122349
Other Identifiers
ISSN
1976-9571
E-ISSN
2092-9293
DOI
10.1007/s13258-022-01349-3
