Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex

Genetics in Medicine 2026

View at publisher

Authors: Laura S. Farach, Costin Leu, Dennis Lal, Althea R. Smith, Ludovica Montanucci, Melissa A. Richard, Kit Sing Au, Hope Northrup

DOI: 10.1016/j.gim.2026.102582

Cited by: 1

References: 31

Fields of Study & Subjects

Tuberous Sclerosis Complex Research PI3K/AKT/mTOR signaling in cancer Neurofibromatosis and Schwannoma Cases

References 31