A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
about
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaPontocerebellar hypoplasia.MRI of the fetal posterior fossa.Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Loss of PCLO function underlies pontocerebellar hypoplasia type IIIPontocerebellar hypoplasia type 2: a neuropathological update.Progress on pontocerebellar hypoplasia.A developmental and genetic classification for midbrain-hindbrain malformations.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall.Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.Genetic mutation in pontocerebellar hypoplasia.TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
P2860
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P2860
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
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2003年论文
@zh-cn
name
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
@en
type
label
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
@en
prefLabel
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
@en
P2093
P1433
P1476
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
@en
P2093
Mochida GH
Shugart YY
P304
P356
10.1212/01.WNL.0000068548.58498.41
P407
P577
2003-05-01T00:00:00Z