Publication
De novo small deletion affecting transcription start site of short isoform of
AUTS2
gene in a patient with syndromic neurodevelopmental defects
Beatriz Martinez‐Delgado, Estrella Lopez‐Martin, Julián Lara‐Herguedas, Sara Monzon, Isabel Cuesta, Miguel Juliá, Virginia Aquino, Carlos Rodriguez‐Martin, Alejandra Damian, Irene Gonzalo, Gema Gomez‐Mariano, Beatriz Baladron, Rosario Cazorla, Gema Iglesias, Enriqueta Roman, Purificacion Ros, Pablo Tutor, Susana Mellor, Carlos Jimenez, Maria Jose Cabrejas, Emiliano Gonzalez‐Vioque, Javier Alonso, Eva Bermejo‐Sánchez, Manuel Posada
American Journal of Medical Genetics Part A, December 2020, Wiley
DOI: 10.1002/ajmg.a.62017