The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication

Copy number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. The CNVs have been associated with different clinical phenotypes such as learning disabilities, short stature, and intellectual disability. The chr...

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Veröffentlicht in:	Journal of the College of Physicians and Surgeons--Pakistan 2022-08, Vol.32 (8 SI), p.S113-S114
Hauptverfasser:	Kocaay, Pinar, Ceylan, Ahmet Cevdet, Tepe, Derya
Format:	Artikel
Sprache:	eng
Schlagworte:	Case studies Causes of Chromosome abnormalities Copy number variations Genetic aspects Mental retardation Stature, Short
Online-Zugang:	Volltext
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