A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.
Gache
Y
Y
Romero-Graillet
C
C
Spadafora
A
A
Lépinard
C
C
Descamps
P
P
Bardon
C B
CB
Ortonne
J P
JP
Meneguzzi
G
G
D015703:Antigens, CD / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D039503:Integrin alpha6; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011708:Pylorus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal
D015703:Antigens, CD; D039503:Integrin alpha6