Article
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
American journal of human genetics - 8 Oct 2010
Funari Vincent A, Krakow Deborah, Nevarez Lisette, Chen Zugen, Funari Tara L, Vatanavicharn Nithiwat, Wilcox William R, Rimoin David L, Nelson Stanley F, Cohn Daniel H
Abstract excerpt
Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence of unknown ancestral consanguinity, we identified two autozygous intervals, comprising 34 Mbps, unique to a single case of DSD....
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