A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

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Published inMovement disorders Vol. 35; no. 5; pp. 896 - 899
Main Authors Haidar, Zahraa, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, Fawaz, Ali, Mehawej, Cybel, Chouery, Eliane
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.05.2020
Wiley Subscription Services, Inc
Subjects
Cyclic Nucleotide Phosphodiesterases, Type 2
Homozygote
Humans
Movement disorders
Mutation - genetics
Phenotype
Rett syndrome
Rett Syndrome - genetics
Splicing
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Author Jalkh, Nadine
Chouery, Eliane
Fawaz, Ali
Corbani, Sandra
Abou‐Ghoch, Joelle
Haidar, Zahraa
Mehawej, Cybel
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  organization: Saint Joseph University
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crossref_primary_10_1016_j_nbd_2023_106393
crossref_primary_10_1111_cge_14386
crossref_primary_10_11569_wcjd_v29_i18_1055
crossref_primary_10_1038_s41380_020_00997_9
crossref_primary_10_3390_socsci11100454
Cites_doi 10.1002/mds.27286
10.1093/cercor/bhy192
10.1111/cge.13153
10.1248/cpb.c17-00564
10.1007/978-3-319-58811-7_12
10.1093/bioinformatics/bty897
10.1002/ajmg.a.34027
10.1002/ana.22124
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Relevant conflicts of interests/financial disclosures
This work (samples collection, analysis, and interpretation of data) was supported by grants from the Research Council of Saint Joseph University, Beirut, Lebanon (FM333). The authors did not receive any personal funding.
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SubjectTerms Cyclic Nucleotide Phosphodiesterases, Type 2
Homozygote
Humans
Movement disorders
Mutation - genetics
Phenotype
Rett syndrome
Rett Syndrome - genetics
Splicing
Title A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome
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