Article
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?
American journal of medical genetics. Part A - 1 Jul 2014
Yoshida Takeshi, Awaya Tomonari, Shibata Minoru, Kato Takeo, Numabe Hironao, Kobayashi Junya, Komatsu Kenshi, Heike Toshio
Abstract excerpt
Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). ATLD is caused by mutations in the MRE11 gene, involved in DNA double-strand break repair (DSBR). In contrast to AT, ATLD patients lack key clinical features, such as telangiectasia or immunodeficiency, and are therefore difficult to be diagnosed. We report a female ATLD...
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