Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report
Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead. Males develop enlarged testicles after puberty, and carr...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Ilam University of Medical Sciences
2024-09-01
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| Col·lecció: | Journal of Basic Research in Medical Sciences |
| Matèries: | |
| Accés en línia: | http://jbrms.medilam.ac.ir/article-1-845-en.pdf |
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