First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma-Reference-Cited by-同舟云学术

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

Published:2019-05-06 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Leoni Chiara¹²^ORCID,Gullo Giuseppe³,Resta Nicoletta⁴^ORCID,Fagotti Anna⁵⁶,Onesimo Roberta¹²^ORCID,Schwartz Brian⁷,Kazakin Julia⁷,Abbadessa Giovanni⁷,Crown John³,Collins Conor D.⁸,Ranieri Carlotta⁴,Scambia Giovanni⁵⁶,Zampino Giuseppe¹²

Affiliation:

1. Center for Rare Diseases and Birth Defects, Department of Woman and Child HealthFondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

2. Istituto di PediatriaUniversità Cattolica del Sacro Cuore Rome Italy

3. Department of OncologySt Vincent's University Hospital Dublin Republic of Ireland

4. Division of Medical GeneticsDepartment of Biomedical Sciences and Human Oncology (DIMO) Univeristà di Bari “Aldo Moro” Bari Italy

5. Division of Gynecological Oncology, Department of Woman and Child HealthFondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

6. Istituto di Ginecologia ed OstetriciaUniversità Cattolica del Sacro Cuore Rome Italy

7. ArQule, Inc. Burlington Massachusetts

8. Department of RadiologySt Vincent's University Hospital Dublin Republic of Ireland

Funder

ArQule, Inc., Burlington, Massachusetts, United States of America

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61160

Reference17 articles.

1. Proteus syndrome: Clinical diagnosis of a series of cases;Alves C.;Indian Journal of Endocrinology and Metabolism,2013

2. The challenges of Proteus syndrome: Diagnosis and management;Biesecker L. G.;European Journal of Human Genetics,2006

3. A genomic view of mosaicism and human disease;Biesecker L. G.;Nature Reviews. Genetics,2013

4. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation;Biesecker L. G.;American Journal of Medical Genetics,1999

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