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Retinitis - Wiley Online Library

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Last Updated: 25 September 2022

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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report

We discuss a fourth identified patient with genomic mutations in the EXOSC2 gene, which code for a cap protein in the RNA exosome in this case report. Intron 8. 801+1G > A in intron 8; a heterozygous maternal variant, missense mutation NM_014285. 7: A in exon 6 and a heterozygous paternal variant; missense mutation NM_014285. 6: A in exon 6 has been identified as a heterozygous maternal variant, missense mutation NM_014285. 6: c427G > A, and a heterozygous paternal variant, A in ma.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62964

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions