Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.
Natsuga
Ken
K
Nishie
Wataru
W
Arita
Ken
K
Shinkuma
Satoru
S
Nakamura
Hideki
H
Kubota
Shogo
S
Imakado
Sumihisa
S
Akiyama
Masashi
M
Shimizu
Hiroshi
H
D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005220:Fathers; D006801:Humans; D007223:Infant; D010375:Pedigree; D011708:Pylorus / Q000002:abnormalities*; D024182:Uniparental Disomy / Q000235:genetics*