Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family.
Ikezumi
Yohei
Y
Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan. ikezumi@med.niigata-u.ac.jp
Kabuki
Naoyuki
N
Hayakawa
Hiroshi
H
Matsui
Toshiharu
T
Gunji
Tetsuki
T
Uchiyama
Makoto
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology; D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000503:physiopathology; D001176:Arthrogryposis / Q000175:diagnosis / Q000503:physiopathology; D002779:Cholestasis / Q000175:diagnosis / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D035781:Siblings; D013577:Syndrome