Congenital heart defects in molecularly proven Kabuki syndrome patients
Author:
Affiliation:
1. Medical Genetics Unit; Medical Genetics Laboratory; Pediatric Cardiology; Bambino Gesù Pediatric Hospital; IRCCS; Rome Italy
2. Department of Pediatrics; Pediatric Cardiology; Sapienza University; Rome Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference62 articles.
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4. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;European Journal of Human Genetics,2012
5. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome;Banka;Clinical Genetics,2013
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