Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B.
Bonnin E, et al. Among authors: hezwani m.
PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec.
PLoS Genet. 2018.
PMID: 30543681
Free PMC article.