Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2

2012 ◽  
Vol 5 (4) ◽  
pp. 277-281 ◽  
Author(s):  
Nathalie Van der Aa ◽  
Geert Vandeweyer ◽  
Edwin Reyniers ◽  
Sandra Kenis ◽  
Lina Dom ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder

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

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

2020 ◽  
Vol 98 (6) ◽  
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Dong Li ◽  
Anna Chassevent ◽  
Frank J. Kaiser ◽  
Ilaria Parenti ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder
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