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The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non‐DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four South Indian assortative mating families.
In this study, we aimed to investigate the relationship between the genetic variant of rs696217‐ghrelin and fasted lipid profile, indices of obesity, and environmental parameters. Amplification refractory mutation system‐polymerase chain reaction (ARMs‐PCR) was used for genotyping 1118...
Although imputation of missing SNP results has been widely used in genetic studies, claims about the quality and usefulness of imputation have outnumbered the few studies that have questioned its limitations. But it is becoming clear that these limitations are real—for example, disease...
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late‐first or early‐second decade of life with mixed movement disorders. Biallelic mutations in ataxia...
The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross‐study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and...
Background: Gabriele‐de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. In this study, we report a 10‐year‐old boy with a de novo novel pathogenic variant in YY1, the first Iranian patient with Gabriele‐de Vries Syndrome.
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