Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.
Department of Pediatrics, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Won Kyoung
WK
Cho
Department of Pediatrics, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
In Ah
IA
Jung
Department of Laboratory Medicine, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Jiyeon
J
Kim
Department of Laboratory Medicine, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Hyojin
H
Chae
Department of Laboratory Medicine, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Myungshin
M
Kim
Department of Pediatrics, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Nack-Gyun
NG
Chung
Department of Pediatrics, The Catholic University of Korea, Seoul St. Mary's Hospital, Seoul, Korea.
Byung-Kyu
BK
Suh
D000293:Adolescent; D001483:Base Sequence; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D004252:DNA Mutational Analysis; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics; D000081003:Shwachman-Diamond Syndrome; D014057:Tomography, X-Ray Computed
D011506:Proteins; C470521:SBDS protein, human