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2. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH Mol Autism; 2017; 8():66. PubMed ID: 29296277 [TBL] [Abstract][Full Text] [Related]
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6. Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Liao C; Fu F; Li R; Yang WQ; Liao HY; Yan JR; Li J; Li SY; Yang X; Li DZ Eur J Med Genet; 2013 Sep; 56(9):484-9. PubMed ID: 23832105 [TBL] [Abstract][Full Text] [Related]
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8. Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Marchal JA; Ghani M; Schindler D; Gavvovidis I; Winkler T; Esquitino V; Sternberg N; Busche A; Krawitz P; Hecht J; Robinson P; Mundlos S; Graul-Neumann L; Sperling K; Trimborn M; Neitzel H Cell Cycle; 2011 Sep; 10(17):2967-77. PubMed ID: 21857152 [TBL] [Abstract][Full Text] [Related]
9. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Boonsawat P; Joset P; Steindl K; Oneda B; Gogoll L; Azzarello-Burri S; Sheth F; Datar C; Verma IC; Puri RD; Zollino M; Bachmann-Gagescu R; Niedrist D; Papik M; Figueiro-Silva J; Masood R; Zweier M; Kraemer D; Lincoln S; Rodan L; ; Passemard S; Drunat S; Verloes A; Horn AHC; Sticht H; Steinfeld R; Plecko B; Latal B; Jenni O; Asadollahi R; Rauch A Genet Med; 2019 Sep; 21(9):2043-2058. PubMed ID: 30842647 [TBL] [Abstract][Full Text] [Related]
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