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Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
Instability of the heterochromatic centromeric regions of chromosomes 1, 9, and 16 associated with immunodeficiency was found in a four year old girl. Similar phenotypic and chromosomal abnormalities were described in a previous patient studied by us and in four other published cases. All these pati...
Gespeichert in:
| Veröffentlicht in: | J Med Genet |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
1988
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015482/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3351904/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.25.3.173 |
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