Article
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Clinical genetics - 1 May 2022
Gönenc Ipek Ilgin, Elcioglu Nursel H, Martinez Grijalva Carolina, Aras Seda, Großmann Nadine, Praulich Inka, Altmüller Janine, Kaulfuß Silke, Li Yun, Nürnberg Peter, Burfeind Peter, Yigit Gökhan, Wollnik Bernd
Abstract excerpt
Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative pathogenic variants in all families including three different variants in BLM and one variant in RMI1....
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