| Autor: |
Wiese, M. L., Saffari, A., Kaiyrzhanov, R., Torbati, P. Najarzadeh, Karimiani, E. G., Zamani, M., Wagner, M., Busemann, E.-M., Ibadova, R., Karagoz, I., Sultan, T., Alvi, J. R., Ilyas, M., Imdad, M., Ullah, W., Rahman, F., Maqbool, S., Iftikhar, K., Alam, C. Al, Afzal, E. |
| Předmět: |
|
| Zdroj: |
Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p |
| Abstrakt: |
This article, published in the journal Neuropediatrics, explores the clinical and genetic spectrum of RAB3GAP1-related disorders, which are associated with neurodevelopmental disorders and other physical abnormalities. The study presents detailed information on 23 patients with biallelic RAB3GAP1 variants from multiple research sites worldwide. The findings reveal a wide range of phenotypic features, including neurological symptoms, imaging abnormalities, and multi-systemic phenotypes. The research provides valuable insights into the genotype-phenotype spectrum of these disorders and may assist in genetic counseling for affected individuals and their families. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
