| Autor: |
Loubna SOUFIAN, Meriem El Qabli, Abdelmajid MOUSSAOUI, Maria MANSOURI, Nisrine ABOUSSAIR |
| Rok vydání: |
2022 |
| Zdroj: |
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5 |
| ISSN: |
2665-7481 |
| Popis: |
Achondroplasia is the most common form of inherited dwarfism. It is an autosomal dominant disease with complete penetrance, although most of the cases are sporadic. This is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) encoding gene.Our work focused on a family sent for genetic consultation at the Mohammed VI University Hospital in Marrakech for disharmonious dwarfism, who benefited from a molecular study by sequencing the FGFR3 gene.Through this work, we highlight the role of the geneticist in the diagnosis and management of this disease as well as in the elaboration of adequate genetic counselling. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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