A novel pathogenic variant in MYO18B associating...

Gene 2020 / 06 Vol. 742

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions

Brunet, Theresa, Westphal, Dominik S., Weber, Sandrina, Juenger, Hendrik, Vlaho, Stefan, Hoefele, Julia, Meitinger, Thomas, Rieger-Fackeldey, Esther, Wagner, Matias
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Volume:
742
Journal:
Gene
DOI:
10.1016/j.gene.2020.144542
Date:
June, 2020
File:
PDF, 280 KB
2020
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