%0 Journal Article
%T A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.
%A Mascaro M
%A D'Ambrosio L
%A Lazzari E
%A Almoguera B
%A Swafiri ST
%A Zanchetta ME
%A Meroni G
%J Biochim Biophys Acta Mol Basis Dis
%V 1870
%N 4
%D 2024 Apr 18
%M 38508475
%F 6.633
%R 10.1016/j.bbadis.2024.167126