Associated Papers
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
38622473 (PubMed )
Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F et al.
European Journal of Human Genetics : Ejhg, 2018
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Marsh AP et al.
American Journal of Medical Genetics. Part A, 2017
Select a paper to view details