De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Authors

Keywords

Intellectual Disability, Truncate Mutation, Severe Psychomotor Retardation, ASXL3 Mutation, Beckman Coulter Genomic

Journal

Volume 5, Issue 2, Pages 11

Publisher

Springer Nature

Online

2013-02-05

DOI

10.1186/gm415

References

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