Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Background: A new syndrome has been recognised following thorough analysis of patients with a terminal submicroscopic subtelomeric deletion of chromosome 9q. These have in common severe mental retardation, hypotonia, brachycephaly, flat face with hypertelorism, synophrys, anteverted nares, thickened...

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Detalhes bibliográficos
Main Authors: Kleefstra, T, Smidt, M, Banning, M, Oudakker, A, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E, Hamel, B, de Bruijn, D, Fryns, J, Yntema, H, Brunner, H, de Vries, B B A, van Bokhoven, H
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736026/
https://ncbi.nlm.nih.gov/pubmed/15805155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.028464
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