The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in...

por Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Badura-Stronka, Magdalena, Juengling, Jerome, Huhn, Kerstin, Biskup, Saskia, Bancerz, Bartłomiej, Walkowiak, Jarosław
Publicado 2023

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

por Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, Kaindl, Angela M.
Publicado 2023