ActivatingPIK3CAsomatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity-Reference-Cited by-同舟云学术

ActivatingPIK3CAsomatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

Published:2014-06-26 Issue:9 Volume:164 Page:2365-2369
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Castiglioni Claudia¹,Bertini Enrico²,Orellana Paulina³,Villarroel Cynthia³,Las Heras Facundo⁴,Hinzpeter Daniel⁵,Paolinelli Paola⁶,Bevilacqua Jorge A.⁷,Alvarez Karin³

Affiliation:

1. Unit of Neurology; Dept. of Pediatrics; Clínica Las Condes; Santiago Chile

2. Laboratory of Molecular Medicine; Bambino Gesu Children's Hospital IRCCS; Rome Italy

3. Laboratory of Molecular Genetics and Oncology; Clínica Las Condes; Santiago Chile

4. Dept. of Pathology; Clínica Las Condes; Santiago Chile

5. Dept. of Traumatology; Clínica Las Condes; Santiago Chile

6. Dept. of Radiology; Clínica Las Condes; Santiago Chile

7. Dep. de Neurología y Neurocirugía; Hospital Clínico Universidad de Chile; Santiago Chile

Funder

National Commission for Scientific and Technological of the Chilean Government (CONICYT)

Clínica Las Condes Chile

Italian Ministry of Health

Office of International Activities of the Bambino Gesu' Children's Research Hospital

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36651/fullpdf

Reference15 articles.

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3. Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle;Grobet;Mamm Genome,1998

4. Functional analysis of PIK3CA gene mutations in human colorectal cancer;Ikenoue;Cancer Res,2005

5. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum;Keppler-Noreuil;Am J Med Genet Part A,2014

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