NFIX

Publications

Bupp C  et al. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome. Clin Dysmorphol. 2020;29(4):214-216. PMID: 32701632.

Hancarova M et al. Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome. Am J Med Genet A. 2019;179(10):2119-2123. PMID: 31369202

Klaassens M et al. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet. 2015;23(5):610-5. PMID: 25118028.

Malan V et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010;87(2):189-98. Epub 2010 Jul 30. PMID: 20673863.

Martinez F  et al. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr Res. 2015;78(5):533-9. Epub 2015 Jul 22. PMID: 26200704.

Mulder PA  et al. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. J Intellect Disabil Res. 2020;64(12):956-969. PMID: 33034087.

Priolo M et al. Further delineation of Malan syndrome. Hum Mutat. 2018;39(9):1226-1237. PMID: 29897170.

Rai A et al. Malan syndrome: Extension of genotype and phenotype spectrum. Am J Med Genet A. 2018;176(12):2896-2900. PMID: 30548146.

Sihombing NRB et al. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism. Am J Med Genet A. 2020;182(11):2731-2736. PMID: 32945093.