Mutations in MED12 Cause X-Linked Ohdo Syndrome-Reference-Cited by-同舟云学术

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Published:2013-03 Issue:3 Volume:92 Page:401-406
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Vulto-van Silfhout Anneke T.,de Vries Bert B.A.,van Bon Bregje W.M.,Hoischen Alexander,Ruiterkamp-Versteeg Martina,Gilissen Christian,Gao Fangjian,van Zwam Marloes,Harteveld Cornelis L.,van Essen Anthonie J.,Hamel Ben C.J.,Kleefstra Tjitske,Willemsen Michèl A.A.P.,Yntema Helger G.,van Bokhoven Hans,Brunner Han G.,Boyer Thomas G.,de Brouwer Arjan P.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive;Verloes;Am. J. Med. Genet. A.,2006

2. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth;Ohdo;J. Med. Genet.,1986

3. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome;Day;Clin. Genet.,2008

4. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome;Clayton-Smith;Am. J. Hum. Genet.,2011

5. Mediator is a transducer of Wnt/beta-catenin signaling;Kim;J. Biol. Chem.,2006

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2. First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report;Gene Reports;2024-09

3. Structural basis of the human transcriptional Mediator complex modulated by its dissociable Kinase module;2024-07-03

4. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome;American Journal of Medical Genetics Part A;2024-04-24

5. Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy;BMC Medical Genomics;2023-12-21