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Paper Details

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.
Am J Med Genet A
0
2022
CCM1, CCM2, CCM3, CCMs, Cerebral cavernous malformations, HEG1, KRIT1, KRIT1 variant, KRIT1-related disease, Mesenteric cysts, NM_194456, PDCD10, cerebral cavernous malformation, chylous ascites, chylous mesenteric cysts, deficient in HEG1, endothelial cell junctions, leaky lymphatic vasculature, lymphatic defects, lymphatic endothelial dysfunction, lymphatic leak, lymphatic malformations, malcavernin, mice
Author NameAffiliation
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
Cornelius F BoerkoelUniversity of British Columbia and Women's Hospital of British Columbia
Hui-Lin ChinUniversity of British Columbia and Women's Hospital of British Columbia
Hui-Lin ChinKhoo Teck Puat-National University Children's Medical Institute, National University Hospital
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Release 1.2