Congenital heart defects in molecularly proven Kabuki syndrome patients-Reference-Cited by-同舟云学术

Congenital heart defects in molecularly proven Kabuki syndrome patients

Published:2017-09-08 Issue:11 Volume:173 Page:2912-2922
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Digilio Maria Cristina¹^ORCID,Gnazzo Maria¹,Lepri Francesca¹,Dentici Maria Lisa¹,Pisaneschi Elisa¹,Baban Anwar¹,Passarelli Chiara¹,Capolino Rossella¹,Angioni Adriano¹,Novelli Antonio¹,Marino Bruno²,Dallapiccola Bruno¹

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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3. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK;Au;Human Mutation,2015

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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