Associated Papers
[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].
Lin XQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
Malan syndrome: Extension of genotype and phenotype spectrum.
Rai A et al.
American Journal of Medical Genetics. Part A, 2018
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M et al.
European Journal of Human Genetics : Ejhg, 2015
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
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V et al.
American Journal of Human Genetics, 2010
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