Associated Papers
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q et al.
Bmc Medical Genomics, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY et al.
International Journal of Molecular Sciences, 2019
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J et al.
American Journal of Medical Genetics. Part A, 2018
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