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Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

  • Published:2002-10-02 Issue:1 Volume:117A Page:10-17
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Rudnik-Schöneborn Sabine,Sztriha László,Aithala Gururaj R.,Houge Gunnar,Laegreid Liv M.,Seeger Jürgen,Huppke Michael,Wirth Brunhilde,Zerres Klaus

Funder

the Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly: report of three siblings;Albrecht;Acta Neuropathol (Berl),1993

2. Pontocerebellar hypoplasias;Barth;Brain Dev,1993

3. Pontocerebellar hypoplasia: how many types?;Barth;Eur J Paediatr Neurol,2000

4. Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNt gene;Bingham;Neurology,1997

5. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA);Chou;Clin Neuropathol,1990

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