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Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
American journal of human genetics Feb, 2014 | Pubmed ID: 24439110
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Human molecular genetics Jul, 2015 | Pubmed ID: 25855803
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Human molecular genetics Nov, 2015 | Pubmed ID: 26293662
Oxford Radcliffe NHS Trust
Valerio Conti*,1,
Aurelie Carabalona*,2,3,15,
Emilie Pallesi-Pocachard2,3,4,
Richard J. Leventer5,6,7,
Fabienne Schaller2,3,8,
Elena Parrini1,
Agathe A. Deparis2,3,
Françoise Watrin2,3,
Emmanuelle Buhler2,3,8,
Francesca Novara9,
Stefano Lise10,
Alistair T. Pagnamenta10,
Usha Kini11,
Jenny C. Taylor10,
Orsetta Zuffardi9,12,
Alfonso Represa2,3,
David Antony Keays13,
Renzo Guerrini1,14,
Antonio Falace2,3,
Carlos Cardoso2,3
1, University of Florence,
2, INSERM INMED,
3, Aix-Marseille University,
4, Plateforme Biologie Moléculaire et Cellulaire INMED,
5, Royal Children's Hospital,
6, Murdoch Children's Research Institute,
7, University of Melbourne,
8, Plateforme postgenomique INMED,
9, University of Pavia,
10, Wellcome Trust Centre for Human Genetics,
11, Oxford Radcliffe NHS Trust,
12, IRCCS Casimiro Mondino Foundation,
13, Research Institute of Molecular Pathology,
14, IRCCS Stella Maris,
15, Columbia University
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