A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 gene
Journal
American Journal of Medical Genetics, Part A
Journal Volume
149
Journal Issue
7
Pages
1550-1554
Date Issued
2009
Author(s)
MING CHEN
SDGs
Other Subjects
metalloproteinase; 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, Genetic
Type
journal article