Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
about
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyOcular manifestations of idiopathic aplastic anemia: retrospective study and literature review.Advances in the understanding of dyskeratosis congenitaThe genomics of inherited bone marrow failure: from mechanism to the clinic.Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderGenetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.Dyskeratosis congenita as a disorder of telomere maintenance.Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.PERIPHERAL RETINOPATHY ASSOCIATED WITH APLASTIC ANEMIA.The role of telomere biology in bone marrow failure and other disordersDyskeratosis congenita- management and review of complications: a case report.The molecular genetics of the telomere biology disorders.The genetics and clinical manifestations of telomere biology disorders.Dyskeratosis congenita: the first NIH clinical research workshop.Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhoodApproach to reticulate hyperpigmentation.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.The wide-ranging clinical implications of the short telomere syndromes.Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'.Posttransplant lymphoproliferative disorder complicating hematopoietic stem cell transplantation in a patient with dyskeratosis congenita.Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child.X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora.Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.Leukoencephalopathy, cerebral calcifications and cysts: a family study.Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.Beginning at the ends: telomeres and human disease.Dyskeratosis congenitaCerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia
P2860
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P2860
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@ast
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en-gb
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@nl
type
label
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@ast
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en-gb
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@nl
prefLabel
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@ast
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en-gb
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@nl
P2093
P2860
P356
P1476
Bilateral retinopathy, aplasti ...... abnormalities: a new syndrome?
@en
P2093
P2860
P304
P356
10.1136/JMG.29.9.673
P407
P577
1992-09-01T00:00:00Z