Article

Phenotypic distinctions of <i>BLM-</i> and <i>RMI1-</i>associated Bloom syndrome

2021-11-10

Abstract excerpt

Bloom syndrome (BS) is an autosomal recessive disease with characteristic clinical features of primary microcephaly, growth deficiency, skin lesions, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative mutations in all families, three different homozygous mutations in BLM and one causative ho...

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Literature Corpus work: af7afdf2-de24-5ecd-8624-f49035385bec
DOI: 10.1101/2021.11.02.21265560

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