PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

JCI Insight

Volumn 1, Issue 9, 2016, Pages

  Mirzaa, Ghayda ^a,b   Timms, Andrew E ^b   Conti, Valerio ^c   Boyle, Evan August ^d   Girisha, Katta M ^e   Martin, Beth ^f   Kircher, Martin ^f   Olds, Carissa ^b   Juusola, Jane ^g   Collins, Sarah ^b   Park, Kaylee ^b   Carter, Melissa ^h   Glass, Ian ^a,b   Krägeloh Mann, Inge ⁱ   Chitayat, David ^j   Parikh, Aditi Shah ^k   Bradshaw, Rachael ^l   Torti, Erin ^l   Braddock, Stephen ^l   Burke, Leah ^m   Ghedia, Sondhya ⁿ   Stephan, Mark ^a   Stewart, Fiona ^o   Prasad, Chitra ^p   Napier, Melanie ^p   Saitta, Sulagna ^q   Straussberg, Rachel ^r   Gabbett, Michael ^s   O’Connor, Bridget C ^t   Keegan, Catherine E ^t   Yin, Lim Jiin ^u   Meeng Lai, Angeline Hwei ^u   Martin, Nicole ^j   McKinnon, Margaret ^v   Addor, Marie Claude ^w   Boccuto, Luigi ^x   Schwartz, Charles E ^x   Lanoel, Agustina ^y   Conway, Robert L ^z   Devriendt, Koenraad ^aa   Tatton Brown, Katrina ^ab,ac   Pierpont, Mary Ella ^ad   Painter, Michael ^ae   Worgan, Lisa ^af   Reggin, James ^f,ag   Hennekam, Raoul ^ah   Tsuchiya, Karen ^f   Pritchard, Colin C ^f   Aracena, Mariana ^ai   Gripp, Karen W ^aj   Cordisco, Maria ^ak   van Esch, Hilde ^aa   Garavelli, Livia ^al   Curry, Cynthia ^am   Goriely, Anne ^an   Kayserilli, Hulya ^ao   Shendure, Jay ^f,ap   Graham, John ^aq   Guerrini, Renzo ^c   Dobyns, William B ^a,b,f   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Seattle Children's Hospital Research Institute   (United States)

^c UNIVERSITY OF FLORENCE   (Italy)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e KASTURBA MEDICAL COLLEGE   (India)

^f UNIVERSITY OF WASHINGTON   (United States)

^g GENEDX   (United States)

^h CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

ⁱ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^j UNIVERSITY OF TORONTO   (Canada)

^k UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^l SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

ⁿ ROYAL NORTH SHORE HOSPITAL   (Australia)

^o ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^p Metabolism and Pediatrics   (Canada)

^q UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^r TEL AVIV UNIVERSITY   (Israel)

^s GRIFFITH UNIVERSITY   (Australia)

^t UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^u KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^v UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^w LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^x GREENWOOD GENETIC CENTER   (United States)

^y Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan   (Argentina)

^z WAYNE STATE UNIVERSITY   (United States)

^aa UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ab ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^ac INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^ad UNIVERSITY OF MINNESOTA   (United States)

^ae UNIVERSITY OF FLORIDA   (United States)

^af LIVERPOOL HOSPITAL   (Australia)

^ag SACRED HEART MEDICAL CENTER   (United States)

^ah ACADEMIC MEDICAL CENTER   (Netherlands)

^ai PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^aj THOMAS JEFFERSON UNIVERSITY   (United States)

^ak UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^al S MARIA NUOVA HOSPITAL   (Italy)

^am UNIVERSITY OF CALIFORNIA   (United States)

^an UNIVERSITY OF OXFORD   (United Kingdom)

^ao KOÇ UNIVERSITY   (Turkey)

^ap HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^aq UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85055606564     PISSN: None     EISSN: 23793708     Source Type: Journal    
DOI: 10.1172/JCI.INSIGHT.87623     Document Type: Article

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