Chrysanthi Billi
Biographic Data
| ID | 8263776 |
|---|---|
| NAME | Chrysanthi Billi |
| GIVEN NAMES | Chrysanthi |
| FAMILY NAME | Billi |
| SIGNATURE | BILLI C |
| AFFILIATIONS | A-Lab Genetic and Genomic Centre, 11524 Athens, Greece |
| ORCID | 0000-0002-1062-9094 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and th…
No prominent works on this page.
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and th…
Biology (1 work) · Cell Adhesion Molecules Research (1 work) · Connective tissue disorders research (1 work) · Exome sequencing (1 work) · Fetus (1 work) · Gene (1 work) · Genetics (1 work) · Gestation (1 work) · Gestational age (1 work) · Medicine (1 work)