Article
DLL3 as a candidate gene for vertebral malformations.
American journal of medical genetics. Part A - 15 Nov 2006
Giampietro Philip F, Raggio Cathleen L, Reynolds Cory, Ghebranious Nader, Burmester James K, Glurich Ingrid, Rasmussen Kristen, McPherson Elizabeth, Pauli Richard M, Shukla Sanjay K, Merchant Sajid, Jacobsen F Stig, Faciszewski Thomas, Blank Robert D
Abstract excerpt
Investigations have not identified a major locus for congenital vertebral malformations. Based on observations in mice, we hypothesized that mutations in DLL3, a member of the notch-signaling pathway, might contribute to human vertebral malformations. We sequenced the DLL3 gene in 50 patients with congenital vertebral malformations. A Caucasian male patient with VACTERL manifestations including a T5-T6 block...
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