Article
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
American journal of medical genetics. Part A - 1 Apr 2020
Lindsay Faith, Anderson Ilse, Wentzensen Ingrid M, Suhrbier David, Stevens Cathy A
Abstract excerpt
Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles, and dentate nuclei with vermian absence or hypogenesis. This anomaly can be isolated or part of a larger spectrum of cerebral abnormalities. At least 90 cases are described in the literature and it has been associated with VACTERL and Gomez-Lopez-Hernandez...
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