Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16‐year‐old girl-Reference-Cited by-同舟云学术

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16‐year‐old girl

Published:2021-09-27 Issue:4 Volume:62 Page:
ISSN:0004-8380
Container-title:Australasian Journal of Dermatology
language:en
Short-container-title:Australas J Dermatol

Author:

Dietrich Carmen¹,Salzmann Martin¹^ORCID,Streit Enrico¹,Toberer Ferdinand¹,Emmert Steffen²,Dikow Nicola³,Haenssle Holger¹^ORCID

Affiliation:

1. Department of Dermatology University Hospital Heidelberg Heidelberg Germany

2. Clinic and Policlinic for Dermatology and Venereology University Medical Center Rostock Rostock Germany

3. Institute of Human Genetics University Hospital Heidelberg Heidelberg Germany

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ajd.13724

Reference5 articles.

1. Xeroderma Pigmentosum: Mondscheinkinder. Xeroderma Pigmentosum: Children of the Moon

2. Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-CausingPOLHMutations

3. KraemerK DiGiovannaJ.Xeroderma Pigmentosum. GeneReviews(®) 2003 Jun 20 Updated 2016 Sep 29 [cited 2021; Available from:https://www.ncbi.nlm.nih.gov/books/NBK1397/.

4. Regression of melanoma metastases and multiple non-melanoma skin cancers in xeroderma pigmentosum by the PD1-antibody pembrolizumab

5. Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells

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1. A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type;Clinical and Experimental Dermatology;2022-11-01

2. Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families;Genes;2022-03-19