Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome : a case report and literature review
Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Im...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 1 vom: 02. Jan., Seite 55-59
|
|---|
| 1. Verfasser: |
Hu, S C
(VerfasserIn) |
|---|
| Weitere Verfasser: |
Wang, Y B,
Sun, Q,
Liu, X R,
Sun, L L,
Cui, G M |
|---|
| Format: | Online-Aufsatz
|
|---|
| Sprache: | Chinese |
|---|
| Veröffentlicht: |
2019
|
|---|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
|---|
| Schlagworte: | Case Reports
Journal Article
Review
Centromere
Chromosomes
Immunologic deficiency syndromes
Mutation
DNA (Cytosine-5-)-Methyltransferases
EC 2.1.1.37 |
|---|