Klin Padiatr 2021; 233(05): 252-253
DOI: 10.1055/a-1481-9016
Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease
Diagnosestellung einer neuen krankheits-verursachenden Mutation bei NP-C Erkrankung mittels Exomanalyse
Sascha Meyer
1
Department of Pediatrics and Neonatology, Saarland University Hospital and Saarland University Faculty of Medicine, Homburg, Germany
,
Gabriele Meyberg-Solomayer
2
Department of Obstetrics and Gynecology,
University Hospital of Saarland, Germany
,
Rainer König
3
Department of Genetics, Bioscientia
Institut fur Medizinische Diagnostik GmbH,
Ingelheim, Germany
,
Sinje Geuer
3
Department of Genetics, Bioscientia
Institut fur Medizinische Diagnostik GmbH,
Ingelheim, Germany
,
Martina Geipel
1
Department of Pediatrics and Neonatology, Saarland University Hospital and Saarland University Faculty of Medicine, Homburg, Germany
,
Nasesien Nourkami-Tutdibi
1
Department of Pediatrics and Neonatology, Saarland University Hospital and Saarland University Faculty of Medicine, Homburg, Germany
,
Barbara Oehl-Jaschkowitz
4
Humangentische Praxis, Homburg,
Germany
,
Ulrike Lindner
1
Department of Pediatrics and Neonatology, Saarland University Hospital and Saarland University Faculty of Medicine, Homburg, Germany
,
Thorsten Marquardt
5
Westfälische Wilhelms University Münster,
Department of Pediatrics, Münster,
Germany
› Author Affiliations
