Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia-Reference-Cited by-同舟云学术

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia

Published:2020-12 Issue:4 Volume:184 Page:1042-1051
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Lores Juliana¹²^ORCID,Prada Carlos E.³⁴⁵^ORCID,Ramírez‐Montaño Diana²,Nastasi‐Catanese José A.¹,Pachajoa Harry¹²

Affiliation:

1. Department of Genetics Fundación Valle del Lili Cali Colombia

2. Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER) Universidad Icesi Cali Colombia

3. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

4. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

5. Fundación Cardiovascular de Colombia Bucaramanga Colombia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31869

Reference34 articles.

1. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway

2. Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis

3. PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

4. Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil;Bertola D. R.;American Journal of Medical Genetics, Part C: Seminars in Medical Genetics,2020

5. Next-generation sequencing identifies rare variants associated with Noonan syndrome

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3. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09

4. Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population;2022-11-29

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