Journal of assisted reproduction and genetics
Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.
Hongbin Zhou, Han Zhang, Huakun Zhang, Dengpeng Zhao, Tianfeng Li, Zhengzhong Wu, Xiaoying He, Xianhua Lin, Chunrong Qin, Xuemei Li
Published: 202610.1007/s10815-025-03794-x
Abstract
PURPOSE: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive genetic and multisystem disorder characterized by extensive intracranial calcifications, leukoencephalopathy, and retinal vascular abnormalities,…
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