1.Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis.
Won Kyoung CHO ; In Ah JUNG ; Jiyeon KIM ; Hyojin CHAE ; Myungshin KIM ; Nack Gyun CHUNG ; Byung Kyu SUH
Annals of Laboratory Medicine 2015;35(2):269-271
No abstract available.
Adolescent
;
Base Sequence
;
Bone Marrow Diseases/*diagnosis/diagnostic imaging/genetics
;
DNA Mutational Analysis
;
Exocrine Pancreatic Insufficiency/*diagnosis/diagnostic imaging/genetics
;
Humans
;
Lipomatosis/*diagnosis/diagnostic imaging/genetics
;
Magnetic Resonance Imaging
;
Male
;
Mutation
;
Proteins/genetics
;
Tomography, X-Ray Computed
Result Analysis
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