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
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
Kooblall KG et al.
Jbmr Plus, 2024
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA et al.
Journal of Intellectual Disability Research : Jidr, 2020
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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