Poster abstracts (pyloric atresia), genetic and dermatology services diagnosis was Junctional Epidermolysis Bullosa, skin biopsy was taken, working on identifying the mutation to offer the family PGD. Junctional epidermolysis bullosa: A blistering skin condition inherited in an autosomal recessive manner, due to mutation of a gene that normally promotes the formation of anchoring filaments (thread-like fibers) or hemidesmosomes (complex structures composed of many proteins). Junctional epidermolysis bullosa (JEB) is usually severe. In the most serious forms, large, ulcerated blisters on the face, trunk, and legs can be life-threatening due to complicated infections and loss of body fluid that leads to severe dehydration.
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