EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome
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N. Hauser | S. Srivastava | J. Niederhuber | T. Vilboux | J. Deeken | D. Ebrahimi-Fakhari | Wendy E Smith | J. Muskett | M. Kane | Jia Zhao | Amelia Diplock | D. Ebrahimi‐Fakhari | M. S. Kane