Article
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
Journal of medical genetics - 1 May 2011
Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold M F, Brock P, Gowans G C, Vasudevan P C, Cresswell L, Taylor E J, Harris C J, Friedman N, Moran R, Feret H, Zackai E H, Theisen A, Rosenfeld J A, Parker M J
Abstract excerpt
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome....
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