Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LC...Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LCA)in their offspring.展开更多
基金Supported by the National Natural Science Foundation of China(No.81970804)Natural Science Foundation of Hunan Province(No.2021JJ30949).
文摘Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LCA)in their offspring.
