deep intronic variant underlying IPEX.
Gaufryau P,Stolzenberg M,Lambert N,Peters P,El Missaoui I,Alioua N,Hanein S,Hamici M,Nitschké P,Zhang P,Bustamante J,Neven B,Picard C,Rieux-Laucat F,Rosain J
Source :
2026 Jul 30
Pmid / DOI:
42529738
Abstract
We report a deep intronic hemizygous likely pathogenic variant (c.968-207A>G) in a male patient with IPEX that was investigated by RNA sequencing in heterozygous female carriers.© 2026 Gaufryau et al.