Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
新型双等位基因COL25A1变异体拓宽了临床表现谱,从先天性颅神经支配障碍到胎儿致死表型。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01839-4
Harms, Frederike L; Müller, Christian; Kortüm, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S; Elhossini, Rasha M; Abdel-Hamid, Mohamed S; AlAbdi, Lama; Alkuraya, Fowzan S; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M; Kutsche, Kerstin