title: A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Hsiang-Hsu
authors.initials: HH
authors.lastname: Kuo
authors.forename: Yi-Chen
authors.initials: YC
authors.lastname: Huang
authors.forename: Yu-Yuan
authors.initials: YY
authors.lastname: Ke
authors.forename: Shun-Ping
authors.initials: SP
authors.lastname: Chang
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Dong-Jay
authors.initials: DJ
authors.lastname: Lee
authors.forename: Meng-Luen
authors.initials: ML
authors.lastname: Lee
authors.forename: Mei-Hui
authors.initials: MH
authors.lastname: Lee
authors.forename: Tze-Ho
authors.initials: TH
authors.lastname: Chen
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
authors.forename: Hui-Mei
authors.initials: HM
authors.lastname: Lin
authors.forename: Chin-San
authors.initials: CS
authors.lastname: Liu
authors.forename: Gwo-Chin
authors.initials: GC
authors.lastname: Ma
mesh_terms: 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*
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human