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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Pubmed ID: 
28574218
Year: 
2017
Month: 
Aug
Volume: 
173
Issue: 
8
Citation: 
Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. American journal of medical genetics. Part A 173 (8) : 2246 - 2250(2017) PubMed (Grant IDs: 1026891)