AKT3andPIK3R2mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH-Reference-Cited by-同舟云学术

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AKT3andPIK3R2mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

Published:2013-06-10 Issue:4 Volume:85 Page:396-398
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Nakamura K.¹²,Kato M.²,Tohyama J.³,Shiohama T.⁴,Hayasaka K.²,Nishiyama K.¹,Kodera H.¹,Nakashima M.¹,Tsurusaki Y.¹,Miyake N.¹,Matsumoto N.¹,Saitsu H.¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

2. Department of Pediatrics; Yamagata University Faculty of Medicine; Yamagata Japan

3. Department of Pediatrics, Epilepsy Center; Nishi-Niigata Chuo National Hospital; Niigata Japan

4. Department of Pediatrics; Kimitsu Chuo Hospital; Chiba Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis;Mirzaa;Am J Med Genet A,2012

2. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Riviere;Nat Genet,2012

3. PI3K/Akt: getting it right matters;Franke;Oncogene,2008

4. Megalencephaly and polymicrogyria with polydactyly syndrome;Tohyama;Pediatr Neurol,2007

5. The human and mouse complement of SH2 domain proteins-establishing the boundaries of phosphotyrosine signaling;Liu;Mol Cell,2006

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5. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth;Genes, Chromosomes and Cancer;2023-07-03

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