A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
ADGRL2 中的新生变异表明,一种新的机制潜在于之前未描述的极度小头畸形与严重减少的脑沟和菱脑联结之间的关联
期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-018-0610-5
Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière, Pascale Saugier-Veber