Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.
Li
Chumei
C
D000037:Abruptio Placentae / Q000235:genetics*; D002835:Christianity; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D012871:Skin Diseases / Q000235:genetics*
D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human