Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
European journal of human genetics : EJHG - 1 Mar 2011
Nagamani Sandesh C Sreenath, Erez Ayelet, Bader Patricia, Lalani Seema R, Scott Daryl A, Scaglia Fernando, Plon Sharon E, Tsai Chun-Hui, Reimschisel Tyler, Roeder Elizabeth, Malphrus Amy D, Eng Patricia A, Hixson Patricia M, Kang Sung-Hae L, Stankiewicz Pawel, Patel Ankita, Cheung Sau Wai
Abstract excerpt
The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although some of these CNVs are clearly pathogenic, the phenotypic consequences of others, such as those in 16p13.11 remain unclear. Whereas deletions of 16p13.11 have been associated with multiple congenital anomalies, the relevance of duplications of the region is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.