Article
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
American journal of hematology - 1 Feb 2015
Bragadottir Gudrun, Birgisdottir Elisabet R, Gudmundsdottir Brynja R, Hilmarsdottir Bylgja, Vidarsson Brynjar, Magnusson Magnus K, Larsen Ole Halfdan, Sorensen Benny, Ingerslev Jorgen, Onundarson Pall T
Abstract excerpt
Bernard-Soulier syndrome (BSS) is a rare severe autosomal recessive bleeding disorder. To date heterozygous carriers of BSS mutations have not been shown to have bleeding symptoms. We assessed bleeding using a semi-quantitative questionnaire, platelet parameters, PFA-100 closure times, ristocetin response, GP Ib/IX expression and VWF antigen in 14 BSS patients, 30 heterozygote carriers for related mutations and...
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