(Q54521291)

English

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

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scholarly article

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies. (English)

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

author name string

L Lambert

1

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

T Bienvenu

2

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

L Allou

3

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

M Valduga

4

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

B Echenne

5

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

B Diebold

6

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

C Mignot

7

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

D Héron

8

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

V Roth

9

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

A Saunier

10

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

A Moustaïne

11

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

P Jonveaux

12

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

C Philippe

13

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

publication date

26 March 2012

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

Clinical Genetics

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

82

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

5

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

499-501

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01861.X

21 January 2018

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01861.X

21 January 2018

Rett syndrome: new clinical and molecular insights.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01861.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2012.01861.X

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

1 reference

Europe PubMed Central

30 May 2018

http://europepmc.org/abstract/MED/22449245

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