A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29198538.
- Also identified by DOI 10.1016/j.jpeds.2017.09.023.
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Abstract
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.
Medical subject headings
- Epidermolysis Bullosa, Junctional
- Gastric Outlet Obstruction
- Integrin beta4
- Pylorus