Missense Variant in PIGM Associated with Severe Cystic Encephalomalacia and Portal Vein Thrombosis: Phenotypic and Genotypic Expansion of the Glycosylphosphatidylinositol Biosynthesis Defect-1 (GPIBD1)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）
关键词
congenital disorders of glycosylation,glycosylphosphatidylinositol,inherited GPI deficiencies,PIGM
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