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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...

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Autores principales: Maraschio, P, Zuffardi, O, Dalla Fior, T, Tiepolo, L
Formato: Artigo
Lenguaje:Inglês
Publicado: 1988
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015482/
https://ncbi.nlm.nih.gov/pubmed/3351904
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