Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
about
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and CystsLeukoencephalopathy with intracranial calcifications and cysts in an adult: Case report and review of literatureMutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plusMutations in the telomere capping complex in bone marrow failure and related syndromes.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Cerebroretinal microangiopathy with calcifications and cysts: A case report.Childhood leukodystrophies: a clinical perspective.Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: A case report and review of literature.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Recognizable phenotypes associated with intracranial calcification.A case of leukoencephalopathy, cerebral calcifications and cysts.Labrune syndrome: A unique leukoencephalopathyAdult-onset leukoencephalopathy, brain calcifications and cysts: a case report.Leukoencephalopathy with cerebral calcifications and cysts: clinical and pathological features in two adults.Response to the article by Linnankivi et al., entitled 'Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia'.Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure.Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome.Leukoencephalopathy, cerebral calcifications and cysts: a family study.A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement.Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.Connecting complex disorders through biology.Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment OptionsCerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia
P2860
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P2860
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
@en
type
label
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
@en
prefLabel
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
@en
P2093
P2860
P50
P356
P1476
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
@en
P2093
Chitayat D
Halliday W
Klusmann-Koy A
P2860
P304
P356
10.1002/AJMG.A.32080
P407
P50
P577
2008-01-01T00:00:00Z