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

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

Cite this

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., ... 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

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.

@article{5b0adcfb508049e9b5eafe4f64ae8da9,

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

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

note = "Export Date: 29 August 2019",

year = "2019",

doi = "10.1002/humu.23767",

language = "English",

volume = "40",

pages = "1046--1056",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "8",

}

TY - JOUR

T1 - Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

AU - Motta, M.

AU - Giancotti, A.

AU - Mastromoro, G.

AU - Chandramouli, B.

AU - Pinna, V.

AU - Pantaleoni, F.

AU - Di Giosaffatte, N.

AU - Petrini, S.

AU - Mazza, T.

AU - D’Ambrosio, V.

AU - Versacci, P.

AU - Ventriglia, F.

AU - Chillemi, G.

AU - Pizzuti, A.

AU - Tartaglia, M.

AU - De Luca, Alessandro

N1 - Export Date: 29 August 2019

PY - 2019

Y1 - 2019

U2 - 10.1002/humu.23767

DO - 10.1002/humu.23767

M3 - Article

VL - 40

SP - 1046

EP - 1056

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 8

ER -

Access to Document

10.1002/humu.23767

https://www2.scopus.com/inward/record.uri?eid=2-s2.0-85070601884&doi=10.1002%2fhumu.23767&partnerID=40&md5=8395f70ab2f864284287da901be144fe

Projects

CASA SOLLIEVO SOFFERENZA - MECCANISMI PATOGENETICI E TERAPIA DELLE MALATTIE RARE

Project: Other project

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

Cite this

Access to Document

Related content

Projects

CASA SOLLIEVO SOFFERENZA - MECCANISMI PATOGENETICI E TERAPIA DELLE MALATTIE RARE