Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner’s syndrome
Author:
Publisher
Wiley
Subject
Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine
Reference13 articles.
1. Spontaneous haemophilia in a genotypically normal female. A family study;Afifi;Acta Haematologica,1974
2. Variant of factor IX deficiency in female with 45, X Turner’s syndrome;Bithell;Blood,1970
3. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII;Cai;Journal of Thrombosis Haemostasis,2006
4. Inversion of Intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner’s Syndrome;Chuansumrit;Thrombosis and Haemostasis,1999
5. Female haemophilia homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles;David;Haemophilia,2003
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1. Female case with misdiagnosis of hemophilia A who underwent total knee arthroplasty: A case report;Clinical Case Reports;2022-03
2. Oral Surgical and Haematological Management in a Female Patient with Turner Syndrome and Moderate Haemophilia A: Clinical Observation and Case Report;The Open Dentistry Journal;2021-09-17
3. Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I);Italian Journal of Pediatrics;2020-09-07
4. Genetic and Laboratory Diagnosis;Inherited Bleeding Disorders in Women 2e;2018-11-19
5. Skewed X-chromosome inactivation in heterozygous female with moderate hemophilia A;GEMATOL TRANSFUZIOL;2018
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