الباحثون

Salim George

المنشورات 1

مقال بحثي وصول مفتوح

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

Roberto L. Mazzaschi, Fern Ashton, Salim George وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1472

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 heterozygous deletion i …

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