Ma Salud Jiménez-Romero

The paper reports on a girl with a 1q42.3q43 duplication, describing her severe speech and language impairments and identifying potential candidate genes.

The paper describes a child with a 9p24.3 duplication causing language impairment, highlighting deficits in language structure and function and potential molecular mechanisms involving the SLIT/ROBO/FOXP2 network and DOCK8-CDC42 interaction.

The paper reports a novel MED13L mutation associated with language impairment, cognitive delay, and behavioral issues in a child.

The paper reports a family with a 15q11.2 BP1-BP2 duplication showing variable phenotypes, suggesting gene expression level changes may affect cognitive development.