Article
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
Molecular medicine reports - 1 Jul 2015
Gurung Nirmala, Grosse Greta, Draaken Markus, Hilger Alina C, Nauman Nuzhat, Müller Andreas, Gembruch Ulrich, Merz Waltraut M, Reutter Heiko, Ludwig Michael
Abstract excerpt
Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expression of murine Ptf1a,...
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