Opening book details…
Can I read CHARGE syndrome, from occurrence to treatment on EtoBox?
CHARGE syndrome, from occurrence to treatment by Yalda Zhoulideh; Jamil Joolideh is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is CHARGE syndrome, from occurrence to treatment about?
CHARGE syndrome is a severe and rare genetic abnormality. It is inherited in an autosomal dominant pattern and is caused by mutations in the CHD7 gene, which is critical in the chromatin remodeling pathway. In rare cases, mutations in the Semaphorin-3E gene may lead to a phenotype similar to CHARGE syndrome. The severity of the disease and associated signs and symptoms can vary widely, but may include distinct facial features, aplasia of semicircular canals, choanal atresia, and coloboma of the iris or retina. Treatment for CHARGE syndrome may vary based on the specific symptoms that appear in each individual. This review will examine the genes involved in this disease, the phenotype and clinical manifestations, methods of diagnosis, and treatment options.
Who reads CHARGE syndrome, from occurrence to treatment?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Yalda Zhoulideh; Jamil Joolideh
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)