Details

Autor(en) / Beteiligte

• Chung, Hye Jin, MD, MS
• Uitto, Jouni, MD, PhD

Titel

Epidermolysis Bullosa with Pyloric Atresia

Ist Teil von

• Dermatologic clinics, 2010, Vol.28 (1), p.43-54

Ort / Verlag

United States

Erscheinungsjahr

2010

Quelle

MEDLINE

Beschreibungen/Notizen

• Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare form of EB. This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the α6 β4 integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA.