Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
Published By: American College of Medical Genetics and Genomics 

​2019

Microdeletion 12p12 Que Incluye El Gen SOX5: Un Nuevo Sindrome con Alteracion Del Neurodesarrollo
Published By: Rev. Neurol (Written in French)
2015

SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

Written By: Marco Angelozzi and Véronique Lefebvre 
​2019

Exome Sequencing Expands the Mechanism of SOX5-Associated Intellectual Disability: A Case Presentation with Review of SOX-Related Disorders.

Published By: Rev. American Journal of Medical Genetics 
2014

RESEARCH ARTICLES 

Lamb-Shaffer Syndrome ​

#LSSsmile 

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG box) family of transcription factors is a cause of intellectual disabilities  

Published By: European Journal of Medical Genetics 

​2015