Article
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Journal of medical genetics - 1 Apr 2005
Kleefstra T, Smidt M, Banning M J G, Oudakker A R, Van Esch H, de Brouwer A P M, Nillesen W, Sistermans E A, Hamel B C J, de Bruijn D, Fryns J-P, Yntema H G, Brunner H G, de Vries B B A, van Bokhoven H
Abstract excerpt
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 lower lip, carp mouth with macroglossia, and conotruncal heart defects. The minimum critical region responsible for...
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