Florina Mihaela Nedelea
Dados Biográficos
| ID | 8269048 |
|---|---|
| NOME | Florina Mihaela Nedelea |
| PRENOMES | Florina Mihaela |
| SOBRENOME | Nedelea |
| ASSINATURA | NEDELEA F M |
| AFILIAÇÕES | Clinical Emergency Hospital Bucharest |
| VERIFICADO | Não |
| TOTAL DE OBRAS | 1 |
| TOTAL DE CITAÇÕES | 0 |
| OBRAS COMO AUTOR | 1 |
| OBRAS COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2024 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2024 |
| ÍNDICE H | 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…
Sem obras proeminentes nesta página.
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 obra) · Biology (1 obra) · Congenital gastrointestinal and neural anomalies (1 obra) · Esophageal and GI Pathology (1 obra) · Exome sequencing (1 obra) · Fetus (1 obra) · Genetic counseling (1 obra) · Genetics (1 obra) · Intrauterine growth restriction (1 obra) · Medicine (1 obra)