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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

✍ Scribed by Sintia Iole Nogueira; April M. Hacker; Fernanda T.S. Bellucco; Denise M. Christofolini; Leslie Domenici Kulikowski; Mirlene C.S.P. Cernach; Beverly S. Emanuel; Maria Isabel Melaragno


Book ID
116433085
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
272 KB
Volume
51
Category
Article
ISSN
1769-7212

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Hemophagocytic lymphohistiocytosis in a
✍ 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