Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

by Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY
Published 2021-07-01

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

by Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié, Patrick Edery
Published 2020-09-01