| Literature DB >> 1481855 |
B C Hamel1, R Happle, P M Steylen, L A Kollée, J H Stekhoven, J G Nijhuis, R Rauskolb, I Anton-Lamprecht.
Abstract
Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.Entities:
Mesh：
Year: 1992 PMID： 1481855 DOI： 10.1002/ajmg.1320440622
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299