Mahmoud Ahmed, Muzammil Hafeez, Anwar Khan, M. Bolkini, N. Ambadi, A. Rana
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Asymptomatic Bernard-Soulier Syndrome With a Novel Mutation
Bernard-Soulier syndrome (BSS) is inherited as an autosomal recessive genetic disorder. It is characterized with thrombocytopenia and giant platelets; and various degrees of BSS can be caused by a number of homozygous or compound heterozygous mutations of genes coding for components of the platelet receptor GPIbIX. Here we present a novel mutation occurring in a family causing BSS without any symptoms. Int J Clin Pediatr. 2020;9(1):16-19 doi: https://doi.org/10.14740/ijcp342
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