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A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

BACKGROUND: Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases,...

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Main Authors: Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267682/
https://ncbi.nlm.nih.gov/pubmed/22214275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-1
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