Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Thalita Figueiredo; Uirá Souto Melo; André Luiz Santos Pessoa; Paulo Ribeiro Nobrega; João Paulo Kitajima; Igor Correa; Mayana Zatz; Fernando Kok; Silvana Santos

doi:10.1136/jmedgenet-2014-102793

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Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

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Thalita Figueiredo Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB, Brazil Department of Biology, Paraiba State University (UEPB), Campina Grande, PB, Brazil PubMed articles Google scholar articles
Uirá Souto Melo Human Genome and Stem Cell Research Center, Biosciences Institute, University of Sao Paulo (USP), Sao Paulo, SP, Brazil PubMed articles Google scholar articles
André Luiz Santos Pessoa Department of Neurology, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil Fortaleza University (UNIFOR), Fortaleza, CE, Brazil PubMed articles Google scholar articles
Paulo Ribeiro Nobrega Department of Neurology, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil PubMed articles Google scholar articles
João Paulo Kitajima Mendelics Genomic Analysis, Sao Paulo, SP, Brazil PubMed articles Google scholar articles
Igor Correa Mendelics Genomic Analysis, Sao Paulo, SP, Brazil PubMed articles Google scholar articles
Mayana Zatz Human Genome and Stem Cell Research Center, Biosciences Institute, University of Sao Paulo (USP), Sao Paulo, SP, Brazil PubMed articles Google scholar articles
Fernando Kok Human Genome and Stem Cell Research Center, Biosciences Institute, University of Sao Paulo (USP), Sao Paulo, SP, Brazil Department of Neurology, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil PubMed articles Google scholar articles
Silvana Santos Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB, Brazil Department of Biology, Paraiba State University (UEPB), Campina Grande, PB, Brazil PubMed articles Google scholar articles

Correspondence to Professor Silvana Santos, Department of Biology, Paraíba State University, Rua das Baraúnas, 351, Bodocongó, Campina Grande, Paraiba 58.410-367, Brazil; silvanasantos{at}ccbs.uepb.edu.br

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Citation

Figueiredo T, Melo US, Pessoa ALS, et al

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Journal of Medical Genetics 2015;52:123-127.

Publication history

Received September 24, 2014
Revised November 25, 2014
Accepted November 26, 2014
First published December 19, 2014.

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April 27, 2016

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