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

van Rij, Maartje C; Jansen, Fenna A R; Hellebrekers, Debby M E I; Onkenhout, W; Smeets, Hubert J M; Hendrickx, Alexandra T; Gottschalk, Ralph W H; Steggerda, Sylke J; Peeters-Scholte, Cacha M P C D; Haak, Monique C; Hilhorst-Hofstee, Yvonne.

Afiliación

van Rij MC; Department of Clinical Genetics Leiden University Medical Centre Leiden Netherlands.
Jansen FA; Department of Obstetrics Leiden University Medical Centre Leiden Netherlands.
Hellebrekers DM; Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Onkenhout W; Department of Metabolic Testing Leiden University Medical Centre Leiden Netherlands.
Smeets HJ; Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Hendrickx AT; Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Gottschalk RW; Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Steggerda SJ; Department of Neonatology Leiden University Medical Centre Leiden Netherlands.
Peeters-Scholte CM; Department of Neurology Leiden University Medical Centre Leiden Netherlands.
Haak MC; Department of Obstetrics Leiden University Medical Centre Leiden Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics Leiden University Medical Centre Leiden Netherlands.