Behrens Pellegrino, María Isabel; Brüggemann, Norbert; Chana, Pedro; Venegas Francke, Pablo; Kägi, Marianne; Parrao, Teresa; Orellana, Patricia; Garrido, Cristián; Rojas, Cecilia V.; Hauke, Jan; Hahnen, Eric; González Victoriano, Rafael; Seleme Herrero, Eduardo; Fernández, Verónica; Schmidt, Alexander; Binkofski, Ferdinand; Kömpf, Detlef; Kubisch, Christian; Hagenah, Johann; Klein, Christine; Ramírez, Alfredo (2010)
Abstract: We report the clinical features of the original Chilean
family with Kufor-Rakeb syndrome (KRS) that led to the
discovery of the ATP13A2 gene at the PARK9 locus. KRS is
a rare juvenile-onset autosomal recessive ...
