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159 related items for PubMed ID: 34227036
1. Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation. Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P. J Mol Neurosci; 2021 Dec; 71(12):2474-2481. PubMed ID: 34227036 [Abstract] [Full Text] [Related]
2. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature. Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31444167 [Abstract] [Full Text] [Related]
3. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. Hertecant J, Komara M, Nagi A, Al-Zaabi O, Fathallah W, Cui H, Yang Y, Eng CM, Al Sorkhy M, Ghattas MA, Al-Gazali L, Ali BR. Eur J Med Genet; 2017 Apr; 60(4):212-216. PubMed ID: 28126652 [Abstract] [Full Text] [Related]
10. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature. Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N. BMC Med Genet; 2020 Jun 30; 21(1):140. PubMed ID: 32605629 [Abstract] [Full Text] [Related]