Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
EPHB4 相关疾病的两面性:新的致病变异和未报告的家庭内重叠表型
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-021-01136-7
Silvia Martin-Almedina, Kazim Ogmen #, Ege Sackey #, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel v