Citations for
1PCH2A, PCH4, TSEN54
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.
Eur J Hum Genet 19(6):724-6. Epub 2011 Feb 2. 2011
2PCH1, PCH2A, PCH3, PCH4, PCH5, PCH6
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.
Am J Med Genet A 152A(9):2268-76. 2010
3PCH2A, PCH4, TSEN54
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E.
Neurology 75(16):1459-64. 2010
4PCH1, PCH2A, PCH2B, PCH2C, PCH4, TSEN2, TSEN34, TSEN54, VRK1
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E.
Am J Hum Genet 85(2):281-9. Epub 2009 Jul 30. 2009
5PCH2A, PCH4, TSEN54
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.
Nat Genet 40(9):1113-8. 2008
6PCH2A, PCH2B, PCH2C, TSEN54
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
Barth PG.
Brain Dev 15(6):411-22. Review. 1993