https://scholars.lib.ntu.edu.tw/handle/123456789/628183
Title: | Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients | Authors: | MING-CHING SHEN Chang, Shun-Ping Lee, Dong-Jay Lin, Wen-Hsiang Chen, Ming Ma, Gwo-Chin |
Keywords: | X-linked; female hemophilia; gonadal mosaicism; heterozygous; inactivation; skewed XCI | Issue Date: | 20-Sep-2022 | Publisher: | MDPI | Journal Volume: | 12 | Journal Issue: | 10 | Source: | Diagnostics (Basel, Switzerland) | Abstract: | Hemophilia 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/628183 | ISSN: | 2075-4418 | DOI: | 10.3390/diagnostics12102267 |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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