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

Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M

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DOI: 10.1002/humu.21492
Published: 2011 Jul
Container: Human mutation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/humu.21492,
  title = {SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.},
  author = {Lepri F and De Luca A and Stella L and Rossi C and Baldassarre G and Pantaleoni F and Cordeddu V and Williams BJ and Dentici ML and Caputo V and Venanzi S and Bonaguro M and Kavamura I and Faienza MF and Pilotta A and Stanzial F and Faravelli F and Gabrielli O and Marino B and Neri G and Silengo MC and Ferrero GB and Torrrente I and Selicorni A and Mazzanti L and Digilio MC and Zampino G and Dallapiccola B and Gelb BD and Tartaglia M},
  year = {2011},
  journal = {Human mutation},
  doi = {10.1002/humu.21492},
  url = {https://doi.org/10.1002/humu.21492}
}

RIS

TY  - JOUR
TI  - SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
AU  - Lepri F
AU  - De Luca A
AU  - Stella L
AU  - Rossi C
AU  - Baldassarre G
AU  - Pantaleoni F
AU  - Cordeddu V
AU  - Williams BJ
AU  - Dentici ML
AU  - Caputo V
AU  - Venanzi S
AU  - Bonaguro M
AU  - Kavamura I
AU  - Faienza MF
AU  - Pilotta A
AU  - Stanzial F
AU  - Faravelli F
AU  - Gabrielli O
AU  - Marino B
AU  - Neri G
AU  - Silengo MC
AU  - Ferrero GB
AU  - Torrrente I
AU  - Selicorni A
AU  - Mazzanti L
AU  - Digilio MC
AU  - Zampino G
AU  - Dallapiccola B
AU  - Gelb BD
AU  - Tartaglia M
PY  - 2011
JO  - Human mutation
DO  - 10.1002/humu.21492
UR  - https://doi.org/10.1002/humu.21492
ER  -

APA

F, L., A, D. L., L, S., C, R., G, B., F, P., V, C., BJ, W., ML, D., V, C., S, V., M, B., I, K., MF, F., A, P., F, S., F, F., O, G., B, M., G, N., MC, S., GB, F., I, T., A, S., L, M., MC, D., G, Z., B, D., BD, G., & M, T. (2011). SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.. Human mutation. https://doi.org/10.1002/humu.21492

Source records

pubmed · retrieved 2026-09-26T23:12:44.862Z