Luminiţa Cima
Biographic Data
| ID | 8269047 |
|---|---|
| NAME | Luminiţa Cima |
| GIVEN NAMES | Luminiţa |
| FAMILY NAME | Cima |
| SIGNATURE | CIMA L |
| AFFILIATIONS | Clinical Emergency Hospital Bucharest |
| ORCID | 0000-0003-3564-7376 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
Prenatal Features of Mirage Syndrome—Case Report and Review of the Literature
MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym…
No prominent works on this page.
Prenatal Features of Mirage Syndrome—Case Report and Review of the Literature
MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym…
Amniocentesis (1 work) · Biology (1 work) · Congenital gastrointestinal and neural anomalies (1 work) · Esophageal and GI Pathology (1 work) · Exome sequencing (1 work) · Fetus (1 work) · Genetic counseling (1 work) · Genetics (1 work) · Intrauterine growth restriction (1 work) · Medicine (1 work)