Cerebroretinal microangiopathy with calcifications and cysts
Автор:
Jesse Russell,Ronald Cohn, 103 стр., издатель:
"Книга по Требованию", ISBN:
978-5-5083-3609-7
High Quality Content by WIKIPEDIA articles! Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progressive calcifications, cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina. Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures, and gastrointestinal bleeding. It is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene, but its exact pathophysiology is still not well understood. Данное издание представляет собой компиляцию сведений, находящихся в свободном доступе в среде Интернет в целом, и в информационном сетевом ресурсе "Википедия" в частности. Собранная по частотным запросам указанной тематики, данная компиляция построена по принципу подбора близких информационных ссылок, не имеет...