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- Title
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.
- Authors
Wilson, H L; Wong, A C C; Shaw, S R; Tse, W-Y; Stapleton, G A; Phelan, M C; Hu, S; Marshall, J; McDermid, H E
- Abstract
The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of expressive speech, hypotonia, normal to accelerated growth, and mild dysmorphic features. We have determined the deletion size and parent of origin in 56 patients with this syndrome.
- Publication
Journal of medical genetics, 2003, Vol 40, Issue 8, p575
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.40.8.575