1.Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
Hyung Suk JIN ; Ho young SONG ; Sung Yoon CHO ; Chang Seok KI ; Song Hyun YANG ; Ok Hwa KIM ; Su Jin KIM
Annals of Laboratory Medicine 2017;37(1):92-94
No abstract available.
Bone Diseases, Developmental/diagnosis/drug therapy/*genetics
;
Child
;
Fibrillin-1/*genetics
;
Hand/diagnostic imaging
;
Heterozygote
;
Human Growth Hormone/therapeutic use
;
Humans
;
Limb Deformities, Congenital/diagnosis/drug therapy/*genetics
;
Male
;
Pelvis/diagnostic imaging