Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
视叶小叶钙蛋白酶 CAPN15 的双等位基因变异与先天性眼部异常、耳聋和其他神经发育缺陷有关。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaa198
Zha, Congyao; Farah, Carole A; Holt, Richard J; Ceroni, Fabiola; Al-Abdi, Lama; Thuriot, Fanny; Khan, Arif O; Helaby, Rana; Lévesque, Sébastien; Alkuraya, Fowzan S; Kraus, Alison; Ragge, Nicola K; Sossin, Wayne S
