Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt–Oram Syndrome
Author:
Affiliation:
1. Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
2. Scientific Research Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Publisher
Mary Ann Liebert Inc
Subject
Cell Biology,Genetics,Molecular Biology,General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/dna.2017.4094
Reference25 articles.
1. Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb
2. Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications
3. Novel frameshift variant in gene SALL4 causing Okihiro syndrome
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