Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
Green Cross Laboratories, Yongin, Korea.
Hyung Suk
HS
Jin
Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.
Ho Young
HY
Song
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Sung Yoon
SY
Cho
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Chang Seok
CS
Ki
Green Cross Laboratories, Yongin, Korea.
Song Hyun
SH
Yang
Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
Ok Hwa
OH
Kim
Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea. sjkim0128@mjh.or.kr.
Su Jin
SJ
Kim
D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D000071838:Fibrillin-1 / Q000235:genetics*; D006225:Hand / Q000000981:diagnostic imaging; D006579:Heterozygote; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D010388:Pelvis / Q000000981:diagnostic imaging; D054392:Adipokines
D000071838:Fibrillin-1; D019382:Human Growth Hormone; C000605722:FBN1 protein, human; D054392:Adipokines