Congenital heart defects in molecularly confirmed KBG syndrome patients-Reference-Cited by-同舟云学术

Congenital heart defects in molecularly confirmed KBG syndrome patients

Published:2021-12-31 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Digilio Maria Cristina¹^ORCID,Calcagni Giulio¹,Gnazzo Maria¹,Versacci Paolo²^ORCID,Dentici Maria Lisa¹^ORCID,Capolino Rossella¹,Sinibaldi Lorenzo¹,Baban Anwar¹^ORCID,Putotto Carolina²,Alfieri Paolo¹,Unolt Marta¹,Lepri Francesca R.¹^ORCID,Alesi Viola¹,Genovese Silvia¹^ORCID,Novelli Antonio¹,Marino Bruno²,Dallapiccola Bruno¹

Affiliation:

1. Medical Genetics Unit and Medical Genetics and Rare Disease Research Division Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS Rome Italy

2. Pediatric Cardiology Unit, Department of Pediatrics and Urologic Sciences “La Sapienza” University Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62632

Reference29 articles.

1. Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

2. KBG syndrome in a cohort of Italian patients

3. KBG syndrome

4. Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

5. Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

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