Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

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作者： vanderCrabben,S.N. ^[1] ; Harakalova,M. ^[2] ; Brilstra,E.H. ^[3] ; vanBerkestijn,F.M.C. ^[4] ; Hofstede,F.C. ; vanVught,A.J. ; Cuppen,E. ; Kloosterman,W. ; PloosvanAmstel,H.K. ; vanHaaften,G. ; vanHaelst,M.M.

作者单位： Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands ^[1] Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands ^[2] Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands ^[3] Department of Paediatric Intensive Care, University Medical Center Utrecht, Utrecht, Netherlands ^[4]

关键词 Accelerated linear growth Alkaline phosphatase Congenital disorder of glycosylation GPI biosynthesis pathway PIGA gene Progressive brain anomalies Refractory epilepsy

发布时间 2014-03-08

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