De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related me...
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
About this item
Full title
Author / Creator
Rivière, Jean-Baptiste , Mirzaa, Ghayda M , O'Roak, Brian J , Beddaoui, Margaret , Alcantara, Diana , Conway, Robert L , St-Onge, Judith , Schwartzentruber, Jeremy A , Gripp, Karen W , Nikkel, Sarah M , Worthylake, Thea , Sullivan, Christopher T , Ward, Thomas R , Butler, Hailly E , Kramer, Nancy A , Albrecht, Beate , Armour, Christine M , Armstrong, Linlea , Caluseriu, Oana , Cytrynbaum, Cheryl , Drolet, Beth A , Innes, A Micheil , Lauzon, Julie L , Lin, Angela E , Mancini, Grazia M S , Meschino, Wendy S , Reggin, James D , Saggar, Anand K , Lerman-Sagie, Tally , Uyanik, Gökhan , Weksberg, Rosanna , Zirn, Birgit , Beaulieu, Chandree L , Majewski, Jacek , Bulman, Dennis E , O'Driscoll, Mark , Shendure, Jay , Graham, John M , Boycott, Kym M , Dobyns, William B and Finding of Rare Disease Genes (FORGE) Canada Consortium
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
William Dobyns and colleagues report
de novo
germline and postzygotic mutations in
AKT3
,
PIK3R2
and
PIK3CA
in the sporadic overgrowth syndromes megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP).
Megalencephaly-capillary malformation (MCAP) and megalencephaly-p...
Alternative Titles
Full title
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Authors, Artists and Contributors
Author / Creator
Mirzaa, Ghayda M
O'Roak, Brian J
Beddaoui, Margaret
Alcantara, Diana
Conway, Robert L
St-Onge, Judith
Schwartzentruber, Jeremy A
Gripp, Karen W
Nikkel, Sarah M
Worthylake, Thea
Sullivan, Christopher T
Ward, Thomas R
Butler, Hailly E
Kramer, Nancy A
Albrecht, Beate
Armour, Christine M
Armstrong, Linlea
Caluseriu, Oana
Cytrynbaum, Cheryl
Drolet, Beth A
Innes, A Micheil
Lauzon, Julie L
Lin, Angela E
Mancini, Grazia M S
Meschino, Wendy S
Reggin, James D
Saggar, Anand K
Lerman-Sagie, Tally
Uyanik, Gökhan
Weksberg, Rosanna
Zirn, Birgit
Beaulieu, Chandree L
Majewski, Jacek
Bulman, Dennis E
O'Driscoll, Mark
Shendure, Jay
Graham, John M
Boycott, Kym M
Dobyns, William B
Finding of Rare Disease Genes (FORGE) Canada Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3408813
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3408813
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2331
