All Relations between Microcephaly and rnf13

Publication Sentence Publish Date Extraction Date Species
Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. missense variants in the rnf13 gene have been previously known to cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive through a gain-of-function disease mechanism. 2023-09-05 2023-09-07 Not clear
Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. heterozygous gain of function variants in a critical region of rnf13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. 2023-09-05 2023-09-07 Not clear
Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. in summary, our case report, literature review, and analysis of disease and population databases strongly support the hypothesis that heterozygous gain-of-function variants in a critical region of rnf13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. 2023-09-05 2023-09-07 Not clear
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 Moldova. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. American journal of human genetics. vol 104. issue 1. 2019-11-04. PMID:30595371. three unrelated affected individuals with congenital microcephaly, infantile epileptic encephalopathy, and profound developmental delay were found to carry heterozygous variants (c.932t>c [p.leu311ser] or c.935t>c [p.leu312pro]) in rnf13, which codes for an ire1\xce\xb1-interacting\xc2\xa0protein. 2019-11-04 2023-08-13 Not clear
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 Moldova. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. American journal of human genetics. vol 104. issue 1. 2019-11-04. PMID:30595371. heterozygous rnf13 gain-of-function variants are associated with congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. 2019-11-04 2023-08-13 Not clear