Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review-Reference-Cited by-同舟云学术

Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review

Published:2021-10-13 Issue:2 Volume:188 Page:431-445
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:

Leoni Chiara¹^ORCID,Blandino Rita²^ORCID,Delogu Angelica Bibiana²³^ORCID,De Rosa Gabriella²³,Onesimo Roberta¹^ORCID,Verusio Valeria²,Marino Maria Vittoria²,Lanza Gaetano Antonio³⁴,Rigante Donato¹³,Tartaglia Marco⁵^ORCID,Zampino Giuseppe¹³^ORCID

Affiliation:

1. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli Rome Italy

2. Unit of Pediatrics, Pediatric Cardiology, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

3. Università Cattolica del Sacro Cuore Rome Italy

4. Department of Cardiovascular and Thoracic Sciences Fondazione Policlinico Universitario A. Gemelli IRCSS Rome Italy

5. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62529

Reference108 articles.

1. Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

2. Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome