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Pontoneocerebellar hypoplasia

Known as: Pontocerebellar hypoplasia 
National Institutes of Health

Related topics

Related topics

7 relations
Congenital pontocerebellar hypoplasiaMicrocephalyPONTOCEREBELLAR HYPOPLASIA, TYPE 10PONTOCEREBELLAR HYPOPLASIA, TYPE 7

Broader (1)

underdevelopment

Papers overview

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2017
2017
Generation of pontocerebellar hypoplasia model zebrafish with CRISPR/Cas9 system
2016
2016
UvA-DARE ( Digital Academic Repository ) On the origin of pontocerebellar hypoplasia : Finding genes for a rare disease
Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or… 
2015
2015
[Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome].
The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many… 
2015
2015
Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with…
Case Study: Hoyeraal-Hreidarsson syndrome (HHS; MIM #305000, Xq28) is a rare X-linked recessive multisystem disorder… 
2015
2015
A combination of chorea , myoclonus , and dystonia in a patient with pontocerebellar hypoplasia type 2 : a video case presentation
An 8-year-old boy was referred to our medical center for the management of involuntary movements. He was born as the second child… 
2012
2012
Affective disorder associated with pontocerebellar hypoplasia
The prevalence of bipolar disorder in adolescents is estimated at 0.7% in males and 1.0% in females over a 12-month period.1… 
2008
2008
Defects in transfer RNA processing cause pontocerebellar hypoplasia