(Q54341452)

28 May 2018

title

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity. (English)

1 reference

28 May 2018

author

Enrico Bertini

2

1 reference

28 May 2018

Claudia Castiglioni

object named as

Claudia Castiglioni

1

0 references

author name string

Paulina Orellana

3

1 reference

28 May 2018

Cynthia Villarroel

4

1 reference

28 May 2018

Facundo Las Heras

5

1 reference

28 May 2018

Daniel Hinzpeter

6

1 reference

28 May 2018

Paola Paolinelli

7

1 reference

28 May 2018

Jorge A Bevilacqua

8

1 reference

28 May 2018

Karin Alvarez

9

1 reference

28 May 2018

language of work or name

English

0 references

publication date

26 June 2014

1 reference

28 May 2018

American Journal of Medical Genetics

published in

1 reference

28 May 2018

volume

164A

1 reference

28 May 2018

issue

9

1 reference

28 May 2018

page(s)

2365-2369

1 reference

28 May 2018

Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Functional analysis of PIK3CA gene mutations in human colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

Proposal of new category for congenital unilateral upper limb muscular hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36651

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36651

1 reference

28 May 2018

1 reference

28 May 2018