Article
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Journal of medical genetics - 1 Aug 2016
Beunders Gea, van de Kamp Jiddeke, Vasudevan Pradeep, Morton Jenny, Smets Katrien, Kleefstra Tjitske, de Munnik Sonja A, Schuurs-Hoeijmakers Janneke, Ceulemans Berten, Zollino Marcella, Hoffjan Sabine, Wieczorek Stefan, So Joyce, Mercer Leanne, Walker Tanya, Velsher Lea, Parker Michael J, Magee Alex C, Elffers Bart, Kooy R Frank, Yntema Helger G, Meijers-Heijboer Elizabeth J, Sistermans Erik A
Abstract excerpt
BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. METHODS: We present a detailed clinical description of 13 patients (including six adults) with AUTS2...
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