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
Saskia N van der Crabben, Magdalena Harakalova, Eva H Brilstra, Frédérique M C van Berkestijn, Floris C Hofstede, Adrianus J van Vught, Edwin Cuppen, Wigard Kloosterman, Hans Kristian Ploos van Amstel, Gijs van Haaften, Mieke M van Haelst
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