Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33897/fullpdf
Reference29 articles.
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2. Pontocerebellar hypoplasias;Barth;Brain Dev,1993
3. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal dyskinesia (PCH2): Compiled data from 10 pedigrees;Barth;Neurology,1995
4. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation;Billuart;Nature,1998
5. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia;Budde;Nat Genet,2008
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