Article
Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
AJNR. American journal of neuroradiology - 1 Oct 2018
Shiran S I, Ben-Sira L, Elhasid R, Roth J, Tabori U, Yalon M, Constantini S, Dvir R
Abstract excerpt
BACKGROUND AND PURPOSE: Biallelic constitutional mutations in DNA mismatch repair genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome (CMMRD), characterized by cancers from multiple organs, most commonly brain tumors, during childhood. Surveillance protocols include total and brain MR imaging among other modalities to enable early detection of tumors. Brain surveillance scans...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.