Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-022-00706-4.pdf
Reference19 articles.
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2. Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ (2015) Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet 1:e16
3. Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ (2017) A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Am J Med Genet A 173:820–823
4. Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F (2017) Novel. Neurol Genet 3:e179
5. Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K (2018) Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. Eur J Hum Genet 26:695–708
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