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Fryns syndrome: A review of the phenotype and diagnostic guidelines

✍ Scribed by Slavotinek, Anne M.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
77 KB
Volume
124A
Category
Article
ISSN
0148-7299

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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