Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Simon Edvardson, Claudia M. Nicolae, Grace J. Noh, Jennifer E. Burton, Giuseppe Punzi, Avraham Shaag, Jessica Bischetsrieder, Anna De Grassi, Ciro Leonardo Pierri, Orly Elpeleg, George Lucian Moldovan

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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Medicine & Life Sciences