Duplication of AKT3 is associated with macrocephaly and speech delay

Am J Med Genet A. 2014 Jul;164A(7):1868-9. doi: 10.1002/ajmg.a.36521. Epub 2014 Apr 3.

Authors

Brian K Chung¹, Patrice Eydoux, Clara D Van Karnebeek, William T Gibson

Affiliation

¹ Child and Family Research Institute, Laboratory for Obesity Genetics and Indirect Calorimetry, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

PMID: 24700746
DOI: 10.1002/ajmg.a.36521

No abstract available

Publication types

Letter
Comment

MeSH terms

Chromosomes, Human, Pair 1 / genetics*
Developmental Disabilities / genetics*
Female
Gene Duplication*
Humans
Intellectual Disability / genetics*
Megalencephaly / genetics*
Proto-Oncogene Proteins c-akt / genetics*

Substances

Proto-Oncogene Proteins c-akt