Aria Belle

Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20.

Transcription Co-Activator Factor 20 (TCF20) Associated Neurodevelopmental Disorder (TAND, OMIM: 618430) is a rare autosomal dominant neurodevelopmental disorder most commonly associated with disruptive TCF20 variants and features overlapping Smith-Magenis syndrome (SMS, OMIM: 182290). Here we present a 40-year-old man...