Rawan Almass
Biographic Data
| ID | 7958747 |
|---|---|
| NAME | Rawan Almass |
| GIVEN NAMES | Rawan |
| FAMILY NAME | Almass |
| SIGNATURE | ALMASS R |
| AFFILIATIONS | King Faisal Specialist Hospital & Research Centre |
| VERIFIED | No |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
A novel missense mutation in Isca2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Our analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells
Case report
The present study reports a novel ALDH7A1 variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment
No prominent works on this page.
A novel missense mutation in Isca2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
Our analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells
Case report
The present study reports a novel ALDH7A1 variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment
Genetics (2 works) · Medicine (2 works) · Missense mutation (2 works) · Mutation (2 works) · Biology (1 work) · Disease (1 work) · Drug Transport and Resistance Mechanisms (1 work) · Epilepsy (1 work) · Exome (1 work) · Exome sequencing (1 work)