Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Roos, Andreas, van der Ven, Peter F M, Alrohaif, Hadil, Kölbel, Heike, Heil, Lorena, Della Marina, Adela, Weis, Joachim, Aßent, Marvin, Beck-Wödl, Stefanie, Barresi, Rita, Töpf, Ana, O’Connor, Kaela, Sickmann, Albert, Kohlschmidt, Nicolai, El Gizouli, Magdeldin, Meyer, Nancy, Daya, Nassam, Grande, Valentina, Bois, Karin, Kaiser, Frank J, Vorgerd, Matthias, Schröder, Christopher, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Evangelista, Teresinha, Röbisch, Luisa, Hentschel, Andreas, Grüneboom, Anika, Fuerst, Dieter O, Kuechler, Alma, Tzschach, Andreas, Depienne, Christel, Lochmüller, Hanns
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
Get full text
Journal Article