Abstract
Junctional epidermolysis bullosa (JEB) which is an autosomal recessive rare disease is one of the major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Mutations in LAMA3, LAMB3, LAMC2, and COL17A1 genes may result with the disease. In this study we perform Preimplantation Genetic Diagnosis (PGD) for a Romanian family in which both parents are carriers of JEB.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
