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Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH

✍ Scribed by Maria Antonietta Mencarelli; Rossella Caselli; Chiara Pescucci; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Francesca Mari


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
329 KB
Volume
143A
Category
Article
ISSN
1552-4825

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## 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