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Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

✍ Scribed by Palumbo, Pietro; Antona, Vincenzo; Palumbo, Orazio; Piccione, Maria; Nardello, Rosaria; Fontana, Antonina; Carella, Massimo; Corsello, Giovanni

Book ID: 122168106
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 864 KB
Volume: 538
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2014.01.050

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## Abstract The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are: