Mutations in the <scp>PH</scp> Domain of <i><scp>DNM</scp>1</i> are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities - Concepedia

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Mutations in the <scp>PH</scp> Domain of <i><scp>DNM</scp>1</i> are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

DOI Full Paper Access

26

Citations

9

References

2018

Year

Emily Brereton, Emily Fassi, Gabriel C. Araujo, Jonathan N. Dodd, Aida Telegrafi, Sheel Pathak, Marwan Shinawi

Molecular Genetics & Genomic Medicine

Abstract

Our data suggest a previously undescribed milder phenotype associated with a missense genetic variant in the PH domain of dynamin 1.

References

	Year	Citations

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