AN X/AUTOSOME TRANSLOCATION IN A GIRL WITH DUCHENNE MUSCULAR DYSTROPHY (DMD): EVIDENCE FOR DMD GENE LOCALIZATION
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Cited by 40 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?;Molecular Cytogenetics;2024-07-12
2. Cardiomyopathies Caused by Pathogenic Variants in the DMD Gene;Kardiologiia;2024-06-30
3. Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.;2022-11-22
4. An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient;International Journal of Molecular Sciences;2022-10-28
5. Inherited Diseases;Tietz Textbook of Clinical Chemistry and Molecular Diagnostics;2012
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