Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

CONCLUSIONS: We describe complex cerebrovascular diseases in Roberts syndrome caused by novel ESCO2 biallelic variations. This case expands not only the cerebral involvement in Roberts syndrome but also the disease spectrum of the neuroimaging triad with leukoencephalopathy, calcifications, and cysts.PMID:37002187 | DOI:10.1002/mgg3.2177

Source: Molecular Medicine - March 31, 2023 Category: Molecular Biology Authors: Shuang He Shuai Chen Shu-Jian Li Jie-Wen Zhang Xin-Liang Liang Source Type: research