Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
Titel:
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
Auteur:
Edvardson, Simon Nicolae, Claudia M. Noh, Grace J. Burton, Jennifer E. Punzi, Giuseppe Shaag, Avraham Bischetsrieder, Jessica De Grassi, Anna Pierri, Ciro Leonardo Elpeleg, Orly Moldovan, George-Lucian