Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome av Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

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Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome av Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz

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