A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 gene

MING CHEN2018-09-102018-09-102009http://www.scopus.com/inward/record.url?eid=2-s2.0-67649889421&partnerID=MN8TOARShttp://scholars.lib.ntu.edu.tw/handle/123456789/353951[SDGs]SDG3metalloproteinase; unclassified drug; uterus spasmolytic agent; zinc metallopeptidase ZMPSTE24; amniocentesis; amnion fluid; Apgar score; autopsy; autosomal disorder; case report; chorioamniotic membrane separation; clinical examination; clinical feature; desquamation; disease association; disease course; disease severity; disease surveillance; DNA extraction; female; fetus distress; fetus heart rate; fetus movement; genetic heterogeneity; histopathology; human; infant; joint contracture; letter; molecular genetics; nonsense mutation; oligohydramnios; premature fetus membrane rupture; priority journal; respiratory failure; restrictive dermopathy; skin biopsy; skin disease; tocolysis; X ray film; Amnion; Chorion; Codon, Nonsense; Fatal Outcome; Female; Fetal Membranes, Premature Rupture; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Membrane Proteins; Metalloendopeptidases; Pregnancy; Skin Diseases, GeneticA case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 genejournal article10.1002/ajmg.a.32768