Cargando…
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
BACKGROUND: Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. This study...
Autores principales: | Ghasemnejad, Tohid, Shekari Khaniani, Mahmoud, Nouri Nojadeh, Jafar, Mansoori Derakhshan, Sima |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8805370/ https://www.ncbi.nlm.nih.gov/pubmed/35101039 http://dx.doi.org/10.1186/s12920-022-01165-4 |
Ejemplares similares
-
Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development
por: Derakhshan, Sima Mansoori, et al.
Publicado: (2017) -
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
por: Lee, Kwanghyuk, et al.
Publicado: (2011) -
Evaluation of a newly discovered breast cancer susceptibility locus at 6q25.1 in Iranian Azari-Turkish women
por: Garehdaghchi, Ziba, et al.
Publicado: (2016) -
Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women
por: Karimian Fathi, Nahid, et al.
Publicado: (2014) -
The Association between Human Leukocyte Antigen Class II DR3–DQ2 Haplotype and Type 1 Diabetes in Children of the East Azerbaijan State of Iran
por: Mansoori Derakhshan, Sima, et al.
Publicado: (2015)