Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

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作者： Sonja,Neuser ^[1] ; Ilona,Krey ^[2] ; Annemarie,Schwan ^[3] ; Rami,Abou Jamra ^[2] ; Tobias,Bartolomaeus ^[2] ; Jan,Döring ^[4] ; Steffen,Syrbe ^[4] ; Margit,Plassmann ^[5] ; Stefan,Rohde ^[6] ; Christian,Roth ^[7] ; Helga,Rehder ^[8] ; Maximilian,Radtke ^[2] ; Diana,Le Duc ^[2] ; Susanna,Schubert ^[2] ; Luis,Bermúdez-Guzmán ^[9] ; Alejandro,Leal ^[9] ; Katharina,Schoner ^[10] ; Bernt,Popp ^[11]

作者单位： Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. sonja.neuser@medizin.uni-leipzig.de. ^[1] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. ^[2] MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany. ^[3] Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany. ^[4] Praxis für Pränatalmedizin, Dortmund, Germany. ^[5] Department of Radiology and Neuroradiology, Klinikum Dortmund, Dortmund, Germany. ^[6] Department for Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany. ^[7] Institute of Medical Genetics, Medical University Vienna, Vienna, Austria.;Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany. ^[8] Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica. ^[9] Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany. ^[10] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. bernt.popp.md@gmail.com. ^[11]