Identification of Frameshift Variants in <i>POLH</i> Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families

Identification of Frameshift Variants in <i>POLH</i> Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants in the <i>POLH</i> gene. <i>POLH</i> encodes an er...

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Bibliographic Details
Main Authors: Ghazala Y. Zamani, Ranjha Khan, Noreen Karim, Zubair M. Ahmed, Muhammad Naeem
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
xeroderma pigmentosum
autosomal recessive
<i>POLH</i>
<i>REV3L</i>
<i>POLD2</i>
<i>REV7</i>
Online Access:https://www.mdpi.com/2073-4425/13/3/543

Internet

https://www.mdpi.com/2073-4425/13/3/543

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