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Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

✍ Scribed by Laura Ciocca, Cecilia Surace, Maria Cristina Digilio…


Book ID
120685629
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
391 KB
Volume
6
Category
Article
ISSN
1755-8794

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Array-CGH and clinical characterization
✍ Maria Piccione; R. Antona; E. Salzano; S. Cavani; M. Malacarne; R. Morreale Bube 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 321 KB 👁 2 views

## Abstract Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defects, and developmental delay. Genotype–phenotype correlations of previously published patients have