Inheritance of the Epidermolysis Bullosa Subtypes
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Published:2023-11-29
Issue:1
Volume:3
Page:
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ISSN:2787-8201
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Container-title:Journal of bioanthropology
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language:
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Short-container-title:J. bioanthropol. (Online)
Author:
Temaj Anjeza1, Gashi Yllka1, Beadini Albulena1, Shabani Arjeta2, Alija Gjylai2, Haxhiu- Zajmi Arlinda2, Nuhii Nexhibe2, Elezi Nevzat1, Beadini Sheqibe1, Elezi Ron1, Zhaku Vegim1, Beadini Nexhbedin1, Uzeiri-Havziu Drita1, Bilalli Sefedin32
Affiliation:
1. Department of General Medicine, Faculty of Medicine 2. Department of Pharmacy, Faculty of medicine 3. Institute of Biochemistry, Shkup, North Macedonia
Abstract
Epidermolysis bullosa (EB) is a group of inherited disorders that cause skin to blister and tear easily. The disease is caused by mutations in structural proteins that are key for maintaining the integrity of the skin’s basement membrane zone or dermoepidermal junction. EB can be inherited in two ways: autosomal dominant and autosomal recessive. The most common form of EB, epidermolysis bullosa simplex (EBS), as well as some forms of dystrophic epidermolysis bullosa (DEB) are inherited in an autosomal dominant pattern. This means they are passed down from an affected parent to half of his or her children. Other forms of EB, such as junctional epidermolysis bullosa (JEB) and some forms of DEB, are inherited in an autosomal recessive pattern. This means that two copies of the mutated gene, one from each parent, are required to develop the condition.
Publisher
Institute for Anthropological Research
Reference27 articles.
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