Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

Abstract: Diamond-Blackfan anemia syndrome (DBAS) is a rare congenital disorder with variable penetrance and expressivity and is characterized by pure red cell aplasia that typically manifests as early-onset chronic macrocytic or normocytic anemia and is often associated with other congenital anomal...

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Main Authors: Ting Wen, Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher, Ashley Andrews, Thomas J. Nicholas, Alexander Chapin, Elaine M. Fan, Lorenzo D. Botto, Pinar Bayrak-Toydemir, Rong Mao, Jessica A. Meznarich
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Blood Advances
Online Access:http://www.sciencedirect.com/science/article/pii/S2473952925001405
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