Novel Mutations in <scp>KCNJ10</scp> Gene Associated With <scp>SeSAME</scp> Syndrome: Rare Disorder With Possible Common Mutation

Our findings can expand the spectrum of mutations in the KCNJ10 gene and provide insight into the genotype-phenotype correlation in the SeSAME syndrome.

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Publication Details

Journal
Molecular Genetics & Genomic Medicine
Published
2026-02-22
DOI
https://doi.org/10.1002/mgg3.70194
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.00
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article

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

Sanaz Mohammadi, Mona Entezam, Forough Sadeghipour, Shayan Shakeri et al.
Molecular Genetics & Genomic Medicine
Ion Transport and Channel Regulation
article

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

Sanaz Mohammadi, Mona Entezam, Forough Sadeghipour, Shayan Shakeri, Marjan Masoudi
article en

Abstract

Our findings can expand the spectrum of mutations in the KCNJ10 gene and provide insight into the genotype-phenotype correlation in the SeSAME syndrome.

Molecular Genetics & Genomic MedicineVol. 14(3)
Shiraz University of Medical Sciences (IR)
Openalex Percentile: Top 46%
Ion Transport and Channel Regulation
DOIOpen Access PDFOpenAlex
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