A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
Chen
Ming
M
Kuo
Hsiang-Hsu
HH
Huang
Yi-Chen
YC
Ke
Yu-Yuan
YY
Chang
Shun-Ping
SP
Chen
Chih-Ping
CP
Lee
Dong-Jay
DJ
Lee
Meng-Luen
ML
Lee
Mei-Hui
MH
Chen
Tze-Ho
TH
Chen
Chia-Hsiang
CH
Lin
Hui-Mei
HM
Liu
Chin-San
CS
Ma
Gwo-Chin
GC
D000650:Amnion / Q000473:pathology*; D002823:Chorion / Q000473:pathology*; D018389:Codon, Nonsense / Q000502:physiology; D017809:Fatal Outcome; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D011247:Pregnancy; D012873:Skin Diseases, Genetic / Q000150:complications*
D018389:Codon, Nonsense; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human