Article
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
American journal of human genetics - 1 Jul 2005
Willatt Lionel, Cox James, Barber John, Cabanas Elisabet Dachs, Collins Amanda, Donnai Dian, FitzPatrick David R, Maher Eddy, Martin Howard, Parnau Josep, Pindar Lesley, Ramsay Jacqueline, Shaw-Smith Charles, Sistermans Erik A, Tettenborn Michael, Trump Dorothy, de Vries Bert B A, Walker Kate, Raymond F Lucy
Abstract excerpt
We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients:...
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