Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

por Rodrigues Bento, Jotte, Feben, Candice, Kempers, Marlies, van Rij, Maartje, Woiski, Mallory, Devriendt, Koenraad, De Catte, Luc, Baldewijns, Marcella, Alaerts, Maaike, Meester, Josephina, Verstraeten, Aline, Hendson, Willy, Loeys, Bart
Publicado 2021

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

por 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
Publicado 2016