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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
Irving, Melita D., Dimitrov, Boyan I., Wessels, Marja, Holder-Espinasse, Muriel, Chitayat, David, Simpson, Michael A.Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37946
Date:
September, 2016
File:
PDF, 858 KB
english, 2016