Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum-Reference-Cited by-同舟云学术

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Published:2021-05-31 Issue:2 Volume:10 Page:114-121
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Yuniati Renni¹,Sihombing Nydia Rena Benita²,Nauphar Donny³,Tiawarman Budi⁴,Kartikasari Diah Shinta¹,Dewi Meira⁵,Faradz Sultana MH²

Affiliation:

1. Department Dermatology and Venereology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia/Dr. Kariadi General Hospital Semarang, Indonesia.

2. Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University/Diponegoro National University Hospital, Semarang, Indonesia.

3. Department of Biomedical Science, Universitas Swadaya Gunung Jati, Cirebon, Indonesia.

4. Bojonggambir Health Center, Tasik Malaya, Indonesia.

5. Department of Anatomical Pathology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia/Dr. Kariadi General Hospital Semarang, Indonesia.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/10/2/10_2020.03143/_pdf

Reference23 articles.

1. 1. Bui CB, Duong TTP, Tran VT, Pham TTT, Vu T, Chau GC, Vo TN Van, Nguyen V, Trinh DTT, Hoang M Van. A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D. Hum Genome Var. 2020; 7:2.

2. 2. Sethi M, Lehmann AR, Fassihi H. Xeroderma pigmentosum: a multidisciplinary approach. EMJ Dermatology. 2013;1:54-63.

3. 3. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. 2011; 6:70.

4. 4. Adu EJK. Malignant and pre-malignant manifestations of xeroderma pigmentosum in Ghanaians. Journal of Biosciences and Medicines. 2016; 4:28-32.

5. 5. Schubert S, Lehmann J, Kalfon L, Slor H, Falik-Zaccai TC, Emmert S. Clinical utility gene card for: Xeroderma pigmentosum. Eur J Hum Genet. 2014; 22(7).

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