Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous g...
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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United States: Elsevier Inc
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Language
English
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Publisher
United States: Elsevier Inc
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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 investigated.
A total of 21 patients including those with the commo...
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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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TN_cdi_proquest_miscellaneous_68600638
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68600638
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1097/01.GIM.0000177419.43309.37
