De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes - Concepedia

Concepedia

Publication | Open Access

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

DOI Full Paper Access

737

Citations

43

References

2012

Year

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel,

Nature Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesisAutophagyPathologyMolecular GeneticsDisease Gene IdentificationGenomicsRelated Megalencephaly SyndromesMolecular DiagnosticsVariant InterpretationPostzygotic Mutations

References

	Year	Citations

Page 1

Page 1