A biallelic variant in <scp>POLR2C</scp> is associated with congenital hearing loss and male infertility: Case report-Reference-Cited by-同舟云学术

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report

Published:2023-01-10 Issue:4 Volume:53 Page:
ISSN:0014-2972
Container-title:European Journal of Clinical Investigation
language:en
Short-container-title:Eur J Clin Investigation

Author:

Bitarafan Fatemeh¹²^ORCID,Razmara Ehsan³^ORCID,Jafarinia Ehsan³,Almadani Navid⁴,Garshasbi Masoud³

Affiliation:

1. Department of Cellular and Molecular Biology, North Tehran Branch Islamic Azad University Tehran Iran

2. Department of Medical Genetics, DeNA Laboratory Tehran Iran

3. Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Teheran Iran

4. Department of Genetics, Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine, ACECR Tehran Iran

Publisher

Wiley

Subject

Clinical Biochemistry,Biochemistry,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/eci.13946

Reference82 articles.

1. The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families;Razmara E;Iran J Basic Med Sci,2018

2. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. Mol genet;Zardadi S;Genomic Med,2020

3. Hearing loss in Waardenburg syndrome: a systematic review

4. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

5. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

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