A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions
Titel:
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions
Auteur:
Brunet, Theresa Westphal, Dominik S. Weber, Sandrina Juenger, Hendrik Vlaho, Stefan Hoefele, Julia Meitinger, Thomas Rieger-Fackeldey, Esther Wagner, Matias