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