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• W2069773914 abstract "In mammals females inactivate one of the two X chromosomes during early development to achieve an equal gene dosage between sexes. This process, named X chromosome inactivation (XCI), usually occurs randomly. However, in a few instances, non-random XCI may take place, thus modulating the phenotype observed in female patients carrying mutations in X-linked genes. Different aspects related to dosage compensation contribute to explain the influences of XCI on the phenotypic variability observed in female patients. The study of two X-linked dominant male-lethal disorders, such as the microphthalmia with linear skin lesions (MLS) syndrome and the oral–facial–digital type I (OFDI) syndrome, offers the opportunity to discuss this intriguing topic. In addition, recent data on the characterisation of a murine model for OFDI provide the opportunity to discuss how differences in the XCI between <i>Homo sapiens</i> and <i>Mus musculus</i> can justify the discrepancies between the phenotypes observed in OFDI patients and the corresponding murine model." @default.
• W2069773914 created "2016-06-24" @default.
• W2069773914 creator A5039004318 @default.
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• W2069773914 date "2008-05-07" @default.
• W2069773914 modified "2023-09-27" @default.
• W2069773914 title "Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders" @default.
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• W2069773914 doi "https://doi.org/10.1136/jmg.2008.058305" @default.
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