Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Abstract Background Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of m...

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Main Authors: Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Molecular Cytogenetics
Subjects:
Congenital heart disease
Cervical ankylosis
Hypoplastic thumb
Osteopenia
Fused central vertebrae
Online Access:http://link.springer.com/article/10.1186/s13039-018-0356-6

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