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PIGH Deficiency Can Be Associated with Severe Neurodevelopmental and Skeletal Manifestations

Camille Tremblay-Laganiere,Rauan Kaiyrzhanov,Reza Maroofian,Thi Tuyet Mai Nguyen,Kamran Salayev,Ilana T. Chilton,Wendy K. Chung,Jill A. Madden,Chanika Phornphutkul,Pankaj B. Agrawal,Henry Houlden,Philippe M. Campeau

CLINICAL GENETICS（2021）

引用 8|浏览67
关键词
alkaline phosphatase,delayed myelination,developmental delay,epilepsy,GPI,hypotonia,IGD,iron overload,language delay
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