SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review-Reference-Cited by-同舟云学术

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

Published:2019-08 Issue:10 Volume:179 Page:2083-2090
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Baban Anwar¹^ORCID,Olivini Nicole¹,Lepri Francesca Romana²^ORCID,Calì Federica¹,Mucciolo Mafalda²,Digilio Maria C.²,Calcagni Giulio¹,di Mambro Corrado¹,Dallapiccola Bruno³,Adorisio Rachele¹,Novelli Antonio²,Drago Fabrizio¹

Affiliation:

1. Pediatric Cardiology and Cardiac Arrhythmias UnitBambino Gesù Children's Hospital and Research Institute Rome Italy

2. Medical Genetics LaboratoryBambino Gesù Children's Hospital and Research Institute Rome Italy

3. Scientific DirectorateBambino Gesù Children's Hospital and Research Institute Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61312

Reference26 articles.

1. Allanson J. E. &Roberts A. E.(2016 February 25). Noonan syndrome. Retrieved fromhttps://www.ncbi.nlm.nih.gov/books/NBK1124/

2. Recent advances in RASopathies

3. The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy

4. Hypertrophic cardiomyopathy.

5. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

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