Article
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
European journal of medical genetics - 1 Jan 2000
Buysse Karen, Reardon William, Mehta Lakshmi, Costa Teresa, Fagerstrom Carrie, Kingsbury Daniel J, Anadiotis George, McGillivray Barbara C, Hellemans Jan, de Leeuw Nicole, de Vries Bert B A, Speleman Frank, Menten Björn, Mortier Geert
Abstract excerpt
Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3,...
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