Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study
: Although based on a limited cohort from Romania, this study provides insights into clinical features suggestive of NS. Our findings highlight the genetic heterogeneity of NS and emphasize the importance of comprehensive genetic testing for confirming diagnosis, guiding clinical management, and supporting family counseling.
Authors
- Crina Șufană
- Camelia Alkhzouz (ORCID: https://orcid.org/0000-0003-4364-7181)
- Mihaela Amelia Dobrescu
- Diana Miclea (ORCID: https://orcid.org/0000-0001-8777-0689)
- Raluca Rancea (ORCID: https://orcid.org/0000-0001-6571-4352)
- Cecilia Lazea (ORCID: https://orcid.org/0000-0002-7649-5308)
- Laura Pop (ORCID: https://orcid.org/0000-0002-5806-0220)
- Romana Vulturar (ORCID: https://orcid.org/0000-0003-2476-9706)
- Simona Căinap (ORCID: https://orcid.org/0000-0001-9500-2372)
- Ionela Pașcanu (ORCID: https://orcid.org/0000-0003-0679-1379)
- Radu A. Popp (ORCID: https://orcid.org/0000-0002-1494-5369)
- Călin Lazăr (ORCID: https://orcid.org/0000-0001-7750-431X)
- Florina Nazarie (ORCID: https://orcid.org/0000-0002-8864-9191)
- Simona Bucerzan (ORCID: https://orcid.org/0000-0003-4557-0333)
- Oana Pînzariu (ORCID: https://orcid.org/0000-0002-0194-7605)
- Ana Adriana David (ORCID: https://orcid.org/0009-0005-6374-7413)
Institutions
- Iuliu Hațieganu University of Medicine and Pharmacy (RO)
- Clinical Emergency Hospital Bucharest (RO)
- University of Medicine and Pharmacy of Craiova (RO)
- Universitatea de Medicină, Farmacie, Științe și Tehnologie „George Emil Palade” din Târgu Mureș (RO)
- Romanian Institute of Science and Technology (RO)
- Rahnuma (PK)
- Spitalul Clinic Județean de Urgență Cluj-Napoca (RO)
- University of Craiova (RO)
Publication Details
- Journal
- Diagnostics
- Published
- 2026-04-17
- DOI
- https://doi.org/10.3390/diagnostics16081207
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00