Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Item
http://www.wikidata.org/entity/Q55984327
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.The fetal cerebellum. Pitfalls in diagnosis and management.Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Pontocerebellar hypoplasia type 2: a neuropathological update.TSEN54 mutations cause pontocerebellar hypoplasia type 5Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaA developmental and genetic classification for midbrain-hindbrain malformations.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.Ultrasonography of the fetal brainstem: a biometric and anatomical, multioperator, cross-sectional study of 913 fetuses of 21-36 weeks of gestation.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?
P2860

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Item
http://www.wikidata.org/entity/Q55984327
description
im März 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 March 2006
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2006
@uk
name
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@en
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@nl
type
label
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@en
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@nl
prefLabel
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@en
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698