A diagnostic dilemma: variant Bernard–Soulier syndrome, a difficult clinical and genetic diagnosis

Okoli, Steven; Madan, Bella; Mwirigi, Anne; Moore, Gary; Drew, Arthur L.; Mitchell, Michael J.; Cutler, Jacky

doi:10.1111/hae.12777

Cited by 4 publications

(1 citation statement)

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“…V to skupino uvrščamo sindrom Bernard-Soulier (24)(25)(26), trombocitni tip von Willebrandove bolezni (27,28), na kromosom X vezano mikrotrombocitopenijo s sindromom Wiscott-Aldrich (29,30), na kromosom X vezano makrotrombocitopenijo (31), avtosomno dominantno trombocitopenijo z normalno velikostjo trombocitov, povezano z mutacijo v MYH9 (angl. myosin heavy chain) genu (32,33), trombocitopenijo z obojestransko odsotno koželj-nico in/ali podlahtnico, strukturnimi nepravilnostmi srca in okvarami ledvic (sindrom TAR) (34), družinsko motnjo trombocitov z nagnjenostjo k razvoju mieloidne maligne bolezni (35) ter nekatere druge.…”

Section: Pmdt Z Znižanim Ali Variabilnim šTevilom Trombocitovunclassified

Sodobni pristop za diagnosticiranje prirojenih motenj delovanja trombocitov

et al. 2016

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Inherited platelet function disorders (IPFD) comprise a heterogeneous group of diseases. Their real frequency is probably underestimated as in many patients with excessive subcutaneous and mucosal bleedings the disorder has not been recognized. The presented diagnostic recommendations are based on a systematic review of the scientific literature and describe the role of platelets in the clotting process and the most common congenital disorders of platelet function. A diagnostic algorithm for clinical and laboratory stepwise management of patients with IPFD is presented.

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