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Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.
Morgado F, Batista M, Moreno A, Coutinho I. Morgado F, et al. Pediatr Dermatol. 2021 Jan;38(1):191-193. doi: 10.1111/pde.14366. Epub 2020 Oct 3. Pediatr Dermatol. 2021. PMID: 33010065 Review.
The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and …
The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bon …
Human telomeres and telomere biology disorders.
Savage SA. Savage SA. Prog Mol Biol Transl Sci. 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. Prog Mol Biol Transl Sci. 2014. PMID: 24993697 Review.
Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and Revesz syndrome. Coats plus syndrome joined the spectrum of DC with the discovery that it is caused by mutations in a telomere-capping gene. ...
Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and Revesz syndrome. Coats plus syndrome joined the …
Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.
Di Donato I, Dotti MT, Federico A. Di Donato I, et al. J Alzheimers Dis. 2014;42 Suppl 3:S27-35. doi: 10.3233/JAD-141026. J Alzheimers Dis. 2014. PMID: 24958462 Review.
In particular, we review the clinical spectrum and the molecular pathogenesis of certain adult-onset leukoencephalopathies, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy wi …
In particular, we review the clinical spectrum and the molecular pathogenesis of certain adult-onset leukoencephalopathies, including cerebr …
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
Picchi E, Ferrazzoli V, Pizzicannella G, Pucci N, Pitocchi F, Valente F, Minosse S, Izzi F, Schirinzi T, Bonomi C, Aiello C, Floris R, Garaci F, Di Giuliano F. Picchi E, et al. Neurol Sci. 2021 Nov;42(11):4471-4487. doi: 10.1007/s10072-021-05560-0. Epub 2021 Sep 5. Neurol Sci. 2021. PMID: 34482485 Review.
Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture tha …
Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genet …
[Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts].
Herrera DA, Vargas SA, Montoya C. Herrera DA, et al. Biomedica. 2014 Apr-Jun;34(2):166-70. doi: 10.1590/S0120-41572014000200003. Biomedica. 2014. PMID: 24967922 Review. Spanish.
Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. ...
Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by