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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature

Journal Article published Aug 2018 in European Journal of Medical Genetics

Research funded by Akademiska Sjukhuset | Spanish Ministry of Economy, Industry and Competitiveness (IPT2011-0964-900000, SAF2011-13156-E) | Sävstaholm foundation

Authors: Sanna Gudmundsson, Göran Annerén, Íñigo Marcos-Alcalde, Maria Wilbe, Malin Melin, Paulino Gómez-Puertas, Marie-Louise Bondeson