Associated Papers
Structural basis of Nuclear Factor 1-X DNA recognition provides prototypic insight into the NFI family.
Tiberi M et al.
Nature Communications, 2025
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P et al.
Journal of Clinical Medicine, 2022
35887841 (PubMed )
Supplement: jcm-11-04078-s001.zip › jcm-1734309-supplementary.pdf
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Macchiaiolo M et al.
Orphanet Journal of Rare Diseases, 2022
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I et al.
American Journal of Human Genetics, 2018
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F et al.
European Journal of Medical Genetics, 2015
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