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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami,Thi Tuyet Mai Nguyen,Nissan Baratang,Praveen K. Raju,Alexej Knaus,Sian Ellard,Gabriela Jones,Baiba Lace,Justine Rousseau,Norbert Fonya Ajeawung,Atsushi Kamei,Gaku Minase,Manami Akasaka,Nami Araya,Eriko Koshimizu,Jenneke van den Ende,Florian Erger,Janine Altmueller,Zita Krumina,Jurgis Strautmanis,Inna Inashkina,Janis Stavusis,Areeg El-Gharbawy,Jessica Sebastian,Ratna Dua Puri,Samarth Kulshrestha,Ishwar C. Verma,Esther M. Maier,Tobias B. Haack, Anil Israni,Julia Baptista,Adam Gunning,Jill A. Rosenfeld,Pengfei Liu,Marieke Joosten,Maria Eugenia Rocha,Mais O. Hashem,Hesham M. Aldhalaan,Fowzan S. Alkuraya,Satoko Miyatake,Naomichi Matsumoto,Peter M. Krawitz,Elsa Rossignol,Taroh Kinoshita,Philippe M. Campeau

AMERICAN JOURNAL OF HUMAN GENETICS（2019）

引用 40|浏览31
关键词
PIGB,glycosylphosphatidylinositol,epilepsy,seizures,neuropathy,alkaline phosphatase,DOORS syndrome,intellectual disability,inherited GPI deficiency (IGD)
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