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Article

A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.

Clinical dysmorphology - 1 Oct 2020

Bupp Caleb, Junewick Joseph, Hess Jennifer L

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PMID: 32701632
DOI: 10.1097/MCD.0000000000000339

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.PMID 32701632Read ↗

[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].Semantic proximity Read ↗

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.Semantic proximity Read ↗

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.Semantic proximity Read ↗

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.Semantic proximity Read ↗

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Semantic proximity Read ↗

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Semantic proximity Read ↗

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.Semantic proximity Read ↗

A new variant of MYCN gene as a cause of Feingold syndromeSemantic proximity Read ↗

Neonatal Marshall-Smith syndrome.Semantic proximity Read ↗

A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndromeSemantic proximity Read ↗

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.Semantic proximity Read ↗

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.Semantic proximity Read ↗

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