Elsner, J.; Mensah, M.A.; Holtgrewe, M.; Hertzberg, J.; Bigoni, S.; Busche, A.; Coutelier, M.; de Silva, D.C.; Elçioglu, N.; Filges, I.; Gerkes, E.; Girisha, K.M.; Graul-Neumann, L.; Jamsheer, A.; Krawitz, P.; Kurth, I.; Markus, S.; Megarbane, A.; Reis, A.; Reuter, M.S.; Svoboda, D.; Teller, C.; Tuysuz, B.; Türkmen, S.; Wilson, M.; Woitschach, R.; Vater, I.; Caliebe, A.; Hülsemann, W.; Horn, D.; Mundlos, S.; Spielmann, M.
(Springer-Verlag., 2021)
ABSTRACT: The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic ...