Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Author(s):
Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; Gottschalk, R.W.H.; Steggerda, S.J.; Peeters-Scholte, C.M.P.C.D.; Haak, M.C.; Hilhorst-Hofstee, Y.
Published
2016
Publication type
Article / Letter to editor
Cerebellar atrophyencephalomyopathyFBXL4 genelactatemitochondrial encephalopathypolyhydramniospyruvate
Date issued
2016-04-30
Language
English
Is part of
Clinical Case Reports (2016), Vol. 4, no. 4, p. 425-428
hdl
1887/114916
doi
10.1002/ccr3.511