title: Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family.
authors.affiliation: Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan. ikezumi@med.niigata-u.ac.jp
authors.forename: Yohei
authors.initials: Y
authors.lastname: Ikezumi
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kabuki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hayakawa
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Matsui
authors.forename: Tetsuki
authors.initials: T
authors.lastname: Gunji
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchiyama
mesh_terms: 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