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Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

We report here a 4-year-old boy with global developmental delay who was referred for karyotyping and fragile X studies. A small interstitial deletion on chromosome 7 at band 7q21 was detected in all cells examined. Subsequent molecular karyotype analysis gave the more detailed result of a 6.3 Mb het...

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Autores principales: Mazzaschi, Roberto L., Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706123/
https://ncbi.nlm.nih.gov/pubmed/23862039
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