Waardenburg syndrome (WS) is a clinically and genetically heterogeneous rare genetic disorder encompassing a wide spectrum of anomalies. WS is divided into four primary categories based on clinical and genetic characteristics. WS exists in an autosomal dominant as well as autosomal recessive form. It is characterized by a range of clinical symptoms including pigmentation anomalies of hair, skin, and iris. In the majority of cases, congenital hearing loss is also present. Dystopia canthorum, limb deformities, and neurological impairment have also been associated with some forms of WS and these clinical impairments are used to classify WS. Up until now, mutations in PAX3, MITF, EDN3, EDNRB, SOX10, and SNAI2 have been reported as the main cause of the disease. In this review, I will provide a brief knowledge about WS and its clinical features, prevalence, and types. In addition, I will summarize up-to-date information about WS-associated genes and their involvement in the disease complexity.
Almatrafi, A. (2022). Clinical and Molecular Genetic Characterization of Waardenburg Syndrome. Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology, 14(1), 277-292. doi: 10.21608/eajbsc.2022.229309
MLA
Ahmed M. Almatrafi. "Clinical and Molecular Genetic Characterization of Waardenburg Syndrome". Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology, 14, 1, 2022, 277-292. doi: 10.21608/eajbsc.2022.229309
HARVARD
Almatrafi, A. (2022). 'Clinical and Molecular Genetic Characterization of Waardenburg Syndrome', Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology, 14(1), pp. 277-292. doi: 10.21608/eajbsc.2022.229309
VANCOUVER
Almatrafi, A. Clinical and Molecular Genetic Characterization of Waardenburg Syndrome. Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology, 2022; 14(1): 277-292. doi: 10.21608/eajbsc.2022.229309
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