Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

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

Published:2019-05-06 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Motta Marialetizia¹,Giancotti Antonella²,Mastromoro Gioia³,Chandramouli Balasubramanian⁴⁵,Pinna Valentina⁶,Pantaleoni Francesca¹,Di Giosaffatte Niccolò⁶,Petrini Stefania⁷,Mazza Tommaso⁸,D’Ambrosio Valentina²,Versacci Paolo⁹,Ventriglia Flavia⁹,Chillemi Giovanni¹⁰,Pizzuti Antonio³,Tartaglia Marco¹^ORCID,Luca Alessandro⁶^ORCID

Affiliation:

1. Genetics and Rare Diseases Research DivisionOspedale Pediatrico Bambino Gesù, IRCCSRome Italy

2. Department of Maternal and Child Health and Urologic Science, Policlinico Umberto I Hospital“Sapienza” UniversityRome Italy

3. Department of Experimental Medicine“Sapienza” UniversityRome Italy

4. CompunetIstituto Italiano di TecnologiaGenoa Italy

5. Scuola Normale SuperiorePisa Italy

6. Molecular Genetics UnitFondazione Casa Sollievo della Sofferenza, IRCCSSan Giovanni Rotondo Italy

7. Confocal Microscopy Core Facility, Research LaboratoriesOspedale Pediatrico Bambino Gesù, IRCCSRome Italy

8. Bioinformatics UnitFondazione Casa Sollievo della Sofferenza, IRCCSSan Giovanni Rotondo Italy

9. Department of PediatricsUniversità SapienzaRome Italy

10. DIBAFUniversità della TusciaViterbo Italy

Funder

Italian Ministry of Health

AIRC

E-Rare

Italian Ministry of Education, University, and Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23767

Reference50 articles.

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2. Recent advances in RASopathies;Aoki Y.;Journal of Human Genetics,2016

3. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype;Bakker M.;Prenatal Diagnosis,2011

4. Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation;Baldassarre G.;American Journal of Medical Genetics. Part A,2014

5. Persistent right umbilical vein in a fetus with Noonan's syndrome: a case report;Bradley E.;Ultrasound in Obstetrics & Gynecology,2001

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