De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.

Keishiro Kinoshita,Yoshito Ishizaki,Hiroyuki Yamamoto,Motoshi Sonoda,Kousuke Yonemoto,Ryutaro Kira,Masafumi Sanefuji,Akihiko Ueda,Hirotaka Matsui,Yukio Ando,Yasunari Sakai,Shouichi Ohga

European Journal of Medical Genetics（2020）

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摘要

This case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.

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关键词

COL4A1,Cerebral hemorrhage,White matter lesions,Small vessels,Intracranial calcification,TORCH,And carbazochrome

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