Natural course of pontocerebellar hypoplasia type 2A-Reference-Cited by-同舟云学术

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Natural course of pontocerebellar hypoplasia type 2A

Published:2014 Issue:1 Volume:9 Page:70
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Sánchez-Albisua Iciar,Frölich Saskia,Barth Peter G,Steinlin Maja,Krägeloh-Mann Ingeborg

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference8 articles.

1. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

2. Pontocerebellar hypoplasia type 2: a neuropathological update

3. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

4. Vorstellung von Normwerten der Gewichtszunahme in der Schwangerschaft (20-43 vollendete Schwangerschaftswochen) unter Berücksichtigung von Körperhöhe und Körpergewicht der Frauen

5. Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings

Cited by 31 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 caused by the TSEN54 mutation: clinical and electroencephalographic characteristics based on 3 cases;Russian Journal of Child Neurology;2024-07-18

2. Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences;Disease Models & Mechanisms;2024-07-01

3. Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations;MOL SYNDROMOL;2024

4. A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report;Frontiers in Pediatrics;2024-02-23

5. Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up;Prenatal Diagnosis;2024-01

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