Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

MING-CHING SHENChang, Shun-PingShun-PingChangLee, Dong-JayDong-JayLeeLin, Wen-HsiangWen-HsiangLinChen, MingMingChenMa, Gwo-ChinGwo-ChinMa2023-02-152023-02-152022-09-202075-4418https://scholars.lib.ntu.edu.tw/handle/123456789/628183Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements, and hermaphrodites. Different methodologies are required to elucidate the underlying causes of such diseases in female patients.enX-linked; female hemophilia; gonadal mosaicism; heterozygous; inactivation; skewed XCISkewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patientsjournal article10.3390/diagnostics12102267362919572-s2.0-85140747601WOS:000872378700001https://api.elsevier.com/content/abstract/scopus_id/85140747601