Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies-Reference-Cited by-同舟云学术

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

Published:2021-03-08 Issue:5 Volume:185 Page:1486-1493
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Matalon Dena R.¹^ORCID,Stevenson David A.¹,Bhoj Elizabeth J.²^ORCID,Santani Avni B.²,Keena Beth²,Cohen Meryl S.³,Lin Angela E.⁴^ORCID,Sheppard Sarah E.²,Zackai Elaine H.²

Affiliation:

1. Division of Medical Genetics Stanford University Stanford California USA

2. Division of Human Genetics and Molecular Biology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Division of Cardiology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Medical Genetics MassGeneral Hospital for Children Boston Massachusetts USA

Funder

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62146

Reference33 articles.

1. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

2. Congenital Polyvalvular Disease: A Review

3. Familial cardiac valvulopathy due to filamin A mutation

4. Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

5. Atrio-ventricular valve dysplasia in 22 newborn infants

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1. The heart in RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-11-21

2. Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature;Frontiers in Pediatrics;2022-10-14

3. Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review;American Journal of Medical Genetics Part A;2021-10-13