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epidermolysis bullosa simplex with pyloric atresia (EBS-PA)
Genetics:
- autosomal recessive
- associated with defects in PLEC
- allelic to EBS-DM
Clinical manifestations:
- severe skin blistering at birth
- congenital pyloric atresia
- death usually occurs in infancy
Database Correlations
OMIM 612138
References
OMIM :accession 612138