Antonis Kattamis
Biographic Data
| ID | 8252969 |
|---|---|
| NAME | Antonis Kattamis |
| GIVEN NAMES | Antonis |
| FAMILY NAME | Kattamis |
| SIGNATURE | KATTAMIS A |
| AFFILIATIONS | Children's Hospital Agia Sophia |
| ORCID | 0000-0002-5178-0655 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2023 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics
Background : Fanconi Anemia (FA) is a rare disorder, characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. FA is caused by pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at dia…
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…
No prominent works on this page.
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…
Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics
Background : Fanconi Anemia (FA) is a rare disorder, characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. FA is caused by pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at dia…
Biology (2 works) · Gene (2 works) · Genetics (2 works) · Internal Medicine (2 works) · Medicine (2 works) · Adrenocortical carcinoma (1 work) · Anemia (1 work) · Bone marrow failure (1 work) · Breast cancer (1 work) · Cancer (1 work)