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
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,Volume:
164
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36184
Date:
January, 2014
File:
PDF, 1.70 MB
english, 2014