Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features
W Smaili, SC Elalaoui, A Zrhidri, L Raymond… - European Journal of …, 2020 - Elsevier
Background Genetic factors represent a considerable part of the etiologies of intellectual
disability; however, the identification of causal genetic anomaly has long been complicated
by the great clinical and genetic heterogeneity of this type of disease. With advances in next-
generation sequencing technologies and functional studies, the identification of genes
involved in intellectual development has led to more accurate diagnostics and better
understanding of the underlying biological pathways. Case report We report on the case of …
disability; however, the identification of causal genetic anomaly has long been complicated
by the great clinical and genetic heterogeneity of this type of disease. With advances in next-
generation sequencing technologies and functional studies, the identification of genes
involved in intellectual development has led to more accurate diagnostics and better
understanding of the underlying biological pathways. Case report We report on the case of …
