Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors

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Lam, Christina; Golas, Gretchen A.; Davids, Mariska; Huizing, Marjan; Kane, Megan S.; Krasnewich, Donna M.; Malicdan, May Christine V.; Adams, David R.; Markello, Thomas C.; Zein, Wadih M.; Gropman, Andrea L.; Lodish, Maya B.; Stratakis, Constantine A.; Maric, Irina; Rosenzweig, Sergio D.; Baker, Eva H.; Ferreira, Carlos R.; Danylchuk, Noelle R.; Kahler, Stephen; Garnica, Adolfo D.; Schaefer, G. Bradley; Boerkoel, Cornelius F.; Gahl, William A.; Wolfe, Lynne A.;
(2015)

PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM, #615398)]. PIGT encodes phos... View more
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