A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

2012 ◽  
Vol 33 (12) ◽  
pp. 1639-1646 ◽  
Author(s):  
Erik G. Puffenberger ◽  
Robert N. Jinks ◽  
Heng Wang ◽  
Baozhong Xin ◽  
Christopher Fiorentini ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Missense Mutation ◽  
Developmental Delay ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Global Developmental Delay ◽  
Homozygous Missense Mutation

scholarly journals A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Takuya Hiraide ◽  
Seiji Watanabe ◽  
Tomoko Matsubayashi ◽  
Kumiko Yanagi ◽  
Mitsuko Nakashima ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Global Developmental Delay
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