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PubMed (OMIM) for id: 5138

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Page 1
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bär S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G. Doummar D, et al. Eur J Hum Genet. 2020 Oct;28(10):1403-1413. doi: 10.1038/s41431-020-0641-9. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467598 Free PMC article.
PDE2A Is Indispensable for Mouse Liver Development and Hematopoiesis.
Barbagallo F, Rotilio V, Assenza MR, Aguanno S, Orsini T, Putti S, Isidori AM, Lenzi A, Naro F, De Angelis L, Pellegrini M. Barbagallo F, et al. Int J Mol Sci. 2020 Apr 21;21(8):2902. doi: 10.3390/ijms21082902. Int J Mol Sci. 2020. PMID: 32326334 Free PMC article.
Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome.
Maurin T, Melancia F, Jarjat M, Castro L, Costa L, Delhaye S, Khayachi A, Castagnola S, Mota E, Di Giorgio A, Servadio M, Drozd M, Poupon G, Schiavi S, Sardone L, Azoulay S, Ciranna L, Martin S, Vincent P, Trezza V, Bardoni B. Maurin T, et al. Cereb Cortex. 2019 Jul 22;29(8):3241-3252. doi: 10.1093/cercor/bhy192. Cereb Cortex. 2019. PMID: 30137253
Critical role of phosphodiesterase 2A in mouse congenital heart defects.
Assenza MR, Barbagallo F, Barrios F, Cornacchione M, Campolo F, Vivarelli E, Gianfrilli D, Auletta L, Soricelli A, Isidori AM, Lenzi A, Pellegrini M, Naro F. Assenza MR, et al. Cardiovasc Res. 2018 May 1;114(6):830-845. doi: 10.1093/cvr/cvy030. Cardiovasc Res. 2018. PMID: 29409032 Free article.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.