Article
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
American journal of medical genetics. Part A - 1 Dec 2011
Schönewolf-Greulich Bitten, Ronan Anne, Ravn Kristine, Baekgaard Peter, Lodahl Marianne, Nielsen Kate, Rendtorff Nanna D, Tranebjaerg Lisbeth, Brøndum-Nielsen Karen, Tümer Zeynep
Abstract excerpt
Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural...
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