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5q11.2 deletion in a patient with tracheal agenesis

✍ Scribed by Poddighe, Pino J; Nikkels, Peter G J; de Krijger, Ronald R; Tibboel, Dick; de Klein, Annelies; de Jong, Elisabeth M; Douben, Hannie; Eussen, Bert H; Felix, Janine F; Wessels, Marja W

Book ID
109849433
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
320 KB
Volume
18
Category
Article
ISSN
1018-4813

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Hemophagocytic lymphohistiocytosis in a
Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2
✍ AricοΏ½, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Gra πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 3 views

We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira