Pontocerebellar Hypoplasia Type 3 With Severe Vitamin A Deficiency
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference17 articles.
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2. Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings;Durmaz;J Neurol,2009
3. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings;Albrecht;Acta Neuropathol (Berl),1993
4. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?;Patel;Am J Med Genet [A],2006
5. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia;Edvardson;Am J Hum Genet,2007
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant;Case Reports in Pediatrics;2019-12-10
2. Pontocerebellar hypoplasia type 3 with tetralogy of Fallot;Brain and Development;2012-05
3. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia;Orphanet Journal of Rare Diseases;2011-07-12
4. Three Cases of Cerebellar Hypoplasia and Vitamin A Deficiency;Journal of Child Neurology;2011-04-04
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