Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

doi:10.1097/01.gim.0000177419.43309.37

Article

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2005

Kurotaki Naohiro, Shen Joseph J, Touyama Mayumi, Kondoh Tatsuro, Visser Remco, Ozaki Takao, Nishimoto Junji, Shiihara Takashi, Uetake Kimiaki, Makita Yoshio, Harada Naoki, Raskin Salmo, Brown Chester W, Höglund Pia, Okamoto Nobuhiko, Lupski James R

Abstract excerpt

PURPOSE: We tested the hypothesis that Sotos syndrome (SoS) due to the common deletion is a contiguous gene syndrome incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investig...

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

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