Article
De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.
European journal of medical genetics - 1 Apr 2020
Kinoshita Keishiro, Ishizaki Yoshito, Yamamoto Hiroyuki, Sonoda Motoshi, Yonemoto Kousuke, Kira Ryutaro, Sanefuji Masafumi, Ueda Akihiko, Matsui Hirotaka, Ando Yukio, Sakai Yasunari, Ohga Shouichi
Abstract excerpt
BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations. CASE REPORT: We report a 17-year-old boy, who presented with recurrent intracranial...
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