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

• Published in: Movement 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
• Language: English
• 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