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epidermolysis bullosa with pyloric atresia; aplasia cutis congenita with gastrointestinal atresia

Genetics: - autosomal recessive - associated with defects in ITGA6 (integrin alpha-6, CD49f) Clinical manifestations: - mucocutaneous fragility & gastrointestinal atresia, most commonly affecting the pylorus

General

epidermolysis bullosa genetic disease of the skin (genodermatosis)

Database Correlations

OMIM 226730

References

  1. UniProt :accession P17301
  2. OMIM :accession 226730