Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping

Author:

Porras Antonio R.12ORCID,Summar Marshal3,Linguraru Marius George14

Affiliation:

1. Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital Washington D.C. USA

2. Department of Biostatistics and Informatics Colorado School of Public Health University of Colorado Anschutz Medical Campus Aurora CO USA

3. Rare Disease Institute – Genetics and Metabolism Children’s National Hospital Washington D.C. USA

4. School of Medicine and Health sciences George Washington University Washington D.C. USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference48 articles.

1. Noonan syndrome;Allanson J. E.;Journal of Medical Genetics,1987

2. Objective studies of the face of Noonan, Cardio‐facio‐cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway;Allanson J. E.;American Journal of Medical Genetics Part A,2016

3. The face of Noonan syndrome: Does phenotype predict genotype;Allanson J. E.;American Journal of Medical Genetics Part A,2010

4. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or noonan‐like phenotype;Bertola D. R.;Genetic Testing,2006

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