DOI:
10.1055/s-00000041
Neuropediatrics
LinksClose Window
References
Hardies K, de Kovel CG, Weckhuysen S. et al; Autosomal Recessive Working Group of the EuroEPINOMICS RES Consortium.
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain 2015;
138 (Pt 11): 3238-3250
We do not assume any responsibility for the contents of the web pages of other providers.