Associated Papers
Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency.
Zhou Y et al.
Frontiers in Genetics, 2025
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D et al.
Human Mutation, 2014
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
Natiq A et al.
Molecular Cytogenetics, 2014
A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.
Priolo M et al.
Gene, 2012
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y et al.
Journal of Human Genetics, 2012
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