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 journalArticle

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

Cite this

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 journalArticle

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.
@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}, A.",
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, A.

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 -