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Article

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome: Figure 1

1 Jun 2003

Abstract excerpt

Summary E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for Autism Spectrum Disorder (ASD) and Developmental Delay (DD). To investigate how Cul3 mutations impact brain development, we generated haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior. Brain MRI found decreased volume of cortical...

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PMID: 12807976
DOI: 10.1136/jmg.40.6.e77

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