A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SCC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid B-M, Bryceson YT, Nordenskjöld M, Nordgren A. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013;[Epub ahead of print] doi:10.1136/jmedgenet-2013-101654
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