Coffin ‐Siris syndrome and cardiac anomaly with a novel SOX11 mutation

We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies. Therefore cardiac anomalies might be a important complication in patients with SOX11 mutations.

Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto Tags: Case Report Source Type: research