Low factor XII level in an individual with Sotos syndrome

Pediatric Blood & Cancer
Joseph J ShenC W Brown

Abstract

Sotos syndrome is an overgrowth disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for cancers and heart defects. Alterations of NSD1 are responsible for this disease. A subset of cases arise from deletions, which is of interest as the factor XII locus lies in close proximity to NSD1. This case report describes an individual with Sotos syndrome and factor XII deficiency, providing a potential link between these two genes and, consequently, expanding the clinical phenotype of Sotos syndrome.

References

Oct 22, 1998·American Journal of Medical Genetics·J M OpitzJ F Reynolds
Jul 27, 2000·American Journal of Hematology·G HelftM Ahlenc-Gelas
Mar 16, 2002·Nature Genetics·Naohiro KurotakiNaomichi Matsumoto
Jun 17, 2003·Journal of Medical Genetics·M RioV Cormier-Daire

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Citations

Sep 20, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Naohiro KurotakiJames R Lupski

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