Title of article
Diagnosis of Xeroderma pigmentosum C by detection of the founder mutation c.1643_1644delTG (p.Val548AlafsX25) in a Sudanese Family
Author/Authors
El-Harith, El-Harith A. University of Dammam - College of Medicine, Saudi Arabia , Pahl, Lisa Institute of Human Genetics - Medical School of Hannover, Germany , Al-Nutaifi, Khlood University of Dammam - College of Medicine, Saudi Arabia , Bukhari, Iqbal University of Dammam - College of Medicine, Saudi Arabia , Schmidtke, Joerg Institute of Human Genetics - Medical School of Hannover, Germany , Stuhrmann, Manfred Institute of Human Genetics - Medical School of Hannover, Germany
From page
85
To page
86
Abstract
Xeroderma pigmentosum (XP, OMIM 278700–278780) is a rare cutaneous autosomal recessive disorder associated with severe morbidity and poor prognosis.
Journal title
Journal of the Saudi Society of Dermatology and Dermatologic Surgery
Journal title
Journal of the Saudi Society of Dermatology and Dermatologic Surgery
Record number
2694134
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