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Female factor IX deficiency due to maternally inherited X‐inactivation
Author(s) -
Esquilin JM,
Takemoto CM,
Green NS
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01842.x
Subject(s) - factor ix , genetics , biology
Esquilin JM, Takemoto CM, Green, NS. Female factor IX deficiency due to maternally inherited X‐inactivation. X‐chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X‐linked disorders from extremely skewed X‐chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation.