Clinical Significance of De Novo and Inherited Copy-Number Variation

Clinical Significance of De Novo and Inherited Copy-Number Variation

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Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNVs remains challenging, especially for inherited CNVs. Well-phenotyped patients (5,531) with ID/MCA were screened for rare CNVs using a...

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Váldodahkkit: Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, De Vries, B
Materiálatiipa: Journal article
Giella:English
Almmustuhtton: 2013

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