Extreme skewing of X‐inactivation: Rethinking severe haemophilia in women and girls
Author:
Affiliation:
1. Queensland Haemophilia Centre Royal Brisbane and Women's Hospital Herston Australia
2. Little Red Drop Haematology The Wesley Hospital Auchenflower Queensland Australia
Publisher
Wiley
Subject
Genetics (clinical),Hematology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.13755
Reference9 articles.
1. A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X‐inactivation;Yang C;Haemophilia,2018
2. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome;Bernard V;Hum Reprod,2016
3. Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio SNP microarray analysis;Mason JA;Mol Genet Genomic Med,2018
4. Sex chromatin and gene action in the mammalian X‐chromosome;Lyon MF;Am J Hum Genet,1962
5. Application of carrier testing to genetic counseling for X‐linked agammaglobulinemia;Allen RC;Am J Hum Genet,1994
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1. Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes;Thrombosis and Haemostasis;2023-11-27
2. The Clinical Genetics of Hemophilia B (Factor IX Deficiency);The Application of Clinical Genetics;2021-11
3. Genetic causes of haemophilia in women and girls;Haemophilia;2020-12-13
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