Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders
Author:
Affiliation:
1. I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital; Centre of Postgraduate Medical Education; Warsaw Poland
2. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland
Publisher
Wiley
Subject
Obstetrics and Gynecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jog.13344/fullpdf
Reference36 articles.
1. Prevalence of muscular dystrophies: A systematic literature review;Theadom;Neuroepidemiology,2014
2. Dystrophin and mutations: One gene, several proteins, multiple phenotypes;Muntoni;Lancet Neurol,2003
3. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase;Tuffery-Giraud;Hum Mutat,2009
4. Improvement of survival in Duchenne muscular dystrophy: Retrospective analysis of 835 patients;Passamano;Acta Myol,2012
5. Prenatal diagnosis of DMD in a female fetus affected by Turner syndrome;Satre;Prenat Diagn,2004
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1. A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?;Journal of Genetic Counseling;2024-06-19
2. The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies;Vojnosanitetski pregled;2023
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