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A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.

AuthorsY Gache, C Romero-Graillet, A Spadafora, C Lépinard, P Descamps, C B Bardon, J P Ortonne, G Meneguzzi
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 111 Issue 5 Pg. 914-6 (Nov 1998) ISSN: 0022-202X [Print] United States
PMID9804362 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Antigens, CD
  • Integrin alpha6
Topics
  • Antigens, CD (genetics)
  • Epidermolysis Bullosa, Junctional (diagnostic imaging, genetics)
  • Female
  • Homozygote
  • Humans
  • Integrin alpha6
  • Male
  • Mutation
  • Pregnancy
  • Pylorus (abnormalities, diagnostic imaging)
  • Ultrasonography, Prenatal

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