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Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

✍ Scribed by Kari Lima; Ivar Følling; Kristin L. Eiklid; Solveig Natvig; Tore G. Abrahamsen


Book ID
106121995
Publisher
Springer
Year
2010
Tongue
English
Weight
139 KB
Volume
169
Category
Article
ISSN
0340-6997

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Patient with a 22q11.2 deletion with no
✍ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 3 views

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini