Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ruta Masiuliene"'
Autor:
Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, an
Externí odkaz:
https://doaj.org/article/1c9dd59da3c14eceb348640c7603e7f9
Autor:
Dovilė Žebrauskienė, Eglė Sadauskienė, Rūta Masiulienė, Sigita Aidietienė, Agnė Šiaudinienė, Valdas Pečeliūnas, Gabrielė Žukauskaitė, Edvardas Žurauskas, Nomeda Valevičienė, Jūratė Barysienė, Eglė Preikšaitienė
Publikováno v:
Medicina, Vol 60, Iss 2, p 237 (2024)
Background and Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin (TTR) gene. More than 140 different disease-causing variants in TTR have been reported. Only a few individual
Externí odkaz:
https://doaj.org/article/57465c76c7cc4fb89e6e8c5b8cdbfbc7