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Title: Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
Authors: Devriendt, Koenraad ×
Matthijs, Gert
Legius, Eric
Schollen, E
Blockmans, Daniel Engelbert
Van Geet, Christel
Degreef, Hugo
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Mar-1997
Series Title: American Journal of Human Genetics vol:60 issue:3 pages:581-7
Abstract: 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 obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Pediatric Hematology & Oncology Section (-)
Laboratory of Dermatology
Laboratory for Clinical Infectious and Inflammatory Disorders
Human Mutations and Polymorphisms Section (-)
Molecular and Vascular Biology
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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