Variable penetrance of the 15q11.2 BP1-BP2 microduplication in a family with cognitive and language impairment
Antonio Benítez‐Burraco, Montserrat Barcos, Isabel Espejo-Portero, Ma Salud Jiménez-Romero
The paper reports a family with a 15q11.2 BP1-BP2 duplication showing variable phenotypes, suggesting gene expression level changes may affect cognitive development.
Molecular Syndromology · Jan 1, 2017Peer-reviewedNeuroscience