# SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/sos1-mutations-in-noonan-syndrome-molecular-spectrum-structural-insights-on/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Francesca Romana Lepri,Alessandro De Luca,Lorenzo Stella,Cesare Rossi,Giuseppina Baldassarre,Francesca Pantaleoni,Viviana Cordeddu,Bradley J. Williams,Maria Lisa Dentici,Viviana Caputo,Serenella Venanzi,Michela Bonaguro,Ines Kavamura,Maria Felicia Faienza,Alba Pilotta,Franco Stanzial,Francesca Faravelli,Orazio Gabrielli,Bruno Marino,Giovanni Neri,Margherita Silengo,Giovanni Battista Ferrero,Isabella Torrrente,Angelo Selicorni,Laura Mazzanti,M. Cristina Digilio,Giuseppe Zampino,Bruno Dallapiccola,Bruce D. Gelb,Marco Tartaglia |
| Citations | 135 |
| DOI | 10.1002/humu.21492 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/2108/11645 |
| OpenAlex ID | https://openalex.org/W2131818798 |
| PMID | 21387466 |
| Type | article |
| Year | 2011 |

## Paper authors

- [Maria Felicia Faienza](https://scholariq.org/researchers/maria-felicia-faienza/)

## Paper primary topic

- [Protein Tyrosine Phosphatases](https://scholariq.org/topics/protein-tyrosine-phosphatases/)

## Paper topics

- [Protein Tyrosine Phosphatases](https://scholariq.org/topics/protein-tyrosine-phosphatases/)
- [Galectins and Cancer Biology](https://scholariq.org/topics/galectins-and-cancer-biology/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.