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Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

✍ Scribed by G. Costain; E. W. C. Chow; P. N. Ray; A. S. Bassett


Book ID
114741563
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
536 KB
Volume
56
Category
Article
ISSN
0964-2633

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Phenotype of adults with the 22q11 delet
✍ Cohen, Eyal; Chow, Eva W. C.; Weksberg, Rosanna; Bassett, Anne S. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 3 views

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age β‰₯18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22