منابع مشابه
Frequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملMutated Fanconi anemia pathway in non-Fanconi anemia cancers
An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research. However, there is limited information about the relationship between the mutated FA pathway and the cancer...
متن کاملFanconi anemia
What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
متن کاملCancer in Fanconi anemia.
of CMV reactivation were reported by other groups using fludarabine in combination with busulphan, melphalan, or low-dose total body irradiation (TBI) (21%-42%). 5,6 The median time of onset of CMV infection was also beyond 45 days in all these studies. The only other regimen associated with a higher and earlier incidence of CMV infection has been a combination of fludarabine and antilymphocyte...
متن کاملGermline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in con...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2002
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20020614-01