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Title
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.
Authors
van der Crabben, Saskia N.; Harakalova, Magdalena; Brilstra, Eva H.; van Berkestijn, Frédérique M.C.; Hofstede, Floris C.; van Vught, Adrianus J.; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M.
Publication
American Journal of Medical Genetics. Part A, 2014, Vol 164A, Issue 1, p29