Ruth H. Walker, Mariana Barreto, James R. Bateman, M. Leonor Bustamante, Graham Chiu, Scott Feitell, Beat M. Frey, Patricio Guerra, Sofia Guerrero, Hans H. Jung, Fernando Maldonado, Eduardo Meyer, Marcelo Miranda, Emelie McFarland, Patricia Oates, Gorka Ochoa, Karin Olsson, Martin Paucar, Jonatan Alvarez Proschle, Esther M. Sammler, Monica Troncoso, Rachel Wu-Wallace, Leo Young, Sunitha Vege, Connie M. Westhoff, Adrian Danek
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The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.
期刊介绍:
Neural Technology is devoted to the convergence between neurobiology and quantum-, nano- and micro-sciences. In our vision, this interdisciplinary approach should go beyond the technological development of sophisticated methods and should contribute in generating a genuine change in our discipline.