XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
XRCC4相关性小头畸形原始侏儒症：7例临床病例系列描述、表型扩展及新的诊断方法
期刊:European Journal of Human Genetics
影响因子:
doi:10.1038/s41431-025-01821-0
Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuß, Silke; Yigit, Gökhan; McKeown, Colina; Savage, Tim; Mulligan, Meghan R; Bicknell, Louise S; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey
