- Low factor XII level in an individual with Sotos syndromeJoseph J Shen
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Pediatr Blood Cancer 44:187-9. 2005..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...
- Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiencyNaohiro Kurotaki
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 7:479-83. 2005..The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investigated...