Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

M. Motta; A. Giancotti; G. Mastromoro; B. Chandramouli; V. Pinna; F. Pantaleoni; N. Di Giosaffatte; S. Petrini; T. Mazza; V. D’Ambrosio; P. Versacci; F. Ventriglia; G. Chillemi; A. Pizzuti; M. Tartaglia; Alessandro De Luca

doi:10.1002/humu.23767

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

M. Motta, A. Giancotti, G. Mastromoro, B. Chandramouli, V. Pinna, F. Pantaleoni, N. Di Giosaffatte, S. Petrini, T. Mazza, V. D’Ambrosio, P. Versacci, F. Ventriglia, G. Chillemi, A. Pizzuti, M. Tartaglia, Alessandro De Luca

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1046-1056
Number of pages	11
Journal	Human Mutation
Volume	40
Issue number	8
DOIs	https://doi.org/10.1002/humu.23767
Publication status	Published - 2019

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Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M., & De Luca, A. (2019). Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. Human Mutation, 40(8), 1046-1056. https://doi.org/10.1002/humu.23767

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. / Motta, M.; Giancotti, A.; Mastromoro, G.; Chandramouli, B.; Pinna, V.; Pantaleoni, F.; Di Giosaffatte, N.; Petrini, S.; Mazza, T.; D’Ambrosio, V.; Versacci, P.; Ventriglia, F.; Chillemi, G.; Pizzuti, A.; Tartaglia, M.; De Luca, Alessandro.

In: Human Mutation, Vol. 40, No. 8, 2019, p. 1046-1056.

Research output: Contribution to journal › Article › peer-review

Motta, M, Giancotti, A, Mastromoro, G, Chandramouli, B, Pinna, V, Pantaleoni, F, Di Giosaffatte, N, Petrini, S , Mazza, T, D’Ambrosio, V, Versacci, P, Ventriglia, F, Chillemi, G, Pizzuti, A, Tartaglia, M & De Luca, A 2019, 'Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy', Human Mutation, vol. 40, no. 8, pp. 1046-1056. https://doi.org/10.1002/humu.23767

Motta, M. ; Giancotti, A. ; Mastromoro, G. ; Chandramouli, B. ; Pinna, V. ; Pantaleoni, F. ; Di Giosaffatte, N. ; Petrini, S. ; Mazza, T. ; D’Ambrosio, V. ; Versacci, P. ; Ventriglia, F. ; Chillemi, G. ; Pizzuti, A. ; Tartaglia, M. ; De Luca, Alessandro. / Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. In: Human Mutation. 2019 ; Vol. 40, No. 8. pp. 1046-1056.

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