Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obliga...

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Autors principals: Devriendt, K, Matthijs, G, Legius, E, Schollen, E, Blockmans, D, van Geet, C, Degreef, H, Cassiman, J J, Fryns, J P
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712491/
https://ncbi.nlm.nih.gov/pubmed/9042917
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