De Boer I, Van den Maagdenberg AMJM, Terwindt GM; Monroy-Jaramillo N, Cerón A, Córdoba-Lanús E, Rivas V, Ochoa-Morales A, Arteaga-Alcaraz MG, Nocedal-Rustrian FC, Gallegos C, Alonso-Vilatela ME, Corona T, Flores J

Idioma: Ingles.
Referencias bibliográficas: 7
Paginas: 141-142
Archivo PDF: 103.71 Kb.

FRAGMENTO

Sin resumen.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Monroy-Jaramillo N, Cerón A, León E, et al. Phenotypic variability in a Mexican mestizo family with retinal vasculopathy with cerebral leukodystrophy and TREX1 mutation p.V235Gfs*6. Rev Invest Clin. 2018;70:68-75.

2. Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139:2909-22.

3. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-70.

4. Pelzer N, Hoogeveen ES, Haan J, et al. Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. J Intern Med. 2018; [Epub ahead of print].

5. Hardy TA, Young S, Sy JS, et al. Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? J Neurol Neurosurg Psychiatry. 2018;89:434-5.

6. Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139:2909-22.

7. Ochoa-Morales A, Rodríguez-Agudelo Y, Chávez-Oliveros M, et al. Presymptomatic diagnosis in retinal vasculopathy with cerebral leukodystrophy. EC Neurol. 2018;10:771-6.