Pontocerebellar hypoplasia type-9 due to a novel p.Arg503Ter truncating variant in AMPD2: a report from India
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-021-01800-4.pdf
Reference5 articles.
1. Kortüm F, Abou Jamra R, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M (2018) Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. Eur J Hum Genet 26:695–708
2. Marsh APL, Novarino G, Lockhart PJ, Leventer RJ (2019) CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. Eur J Hum Gen EJHG 27:161–166
3. van Dijk T, Baas F, Barth PG, Poll-The BT (2018) What’s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis 13:92
4. 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 Gen 1:e16
5. Scola E, Ganau M, Robinson R, Cleary M, De Cocker LJL, Mankad K, Triulzi F, D’Arco F (2019) Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis. Quant Imaging Med Surg 9:1966–1972
Cited by 2 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 Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features;Cureus;2024-04-18
2. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia;neurogenetics;2022-11-29
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