Condition: Malan overgrowth syndrome


rs1568318932 in NFIX gene and Malan overgrowth syndrome PMID 25118028 2015 Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

PMID 26193383 2015 NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

PMID 26200704 2015 Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

PMID 24375697 2014 DIAMUND: direct comparison of genomes to detect mutations.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.