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, A. De Luca

Research output: Contribution to journal › Article

Original languageEnglish
Pages (from-to)1046-1056
Number of pages11
JournalHuman Mutation
Volume40
Issue number8
DOIs
Publication statusPublished - 2019

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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, A.

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

Research output: Contribution to journal › Article

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 et al. Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. Human Mutation. 2019;40(8):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, A. / 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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AU - Pinna, V.

AU - Pantaleoni, F.

AU - Di Giosaffatte, N.

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AU - Mazza, T.

AU - D’Ambrosio, V.

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AU - Chillemi, G.

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