Article
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
American journal of medical genetics. Part A - 1 Aug 2011
Rosenfeld Jill A, Drautz Joanne Milisa, Clericuzio Carol L, Cushing Tom, Raskin Salmo, Martin Judith, Tervo Raymond C, Pitarque Jose A, Nowak Dorota M, Karolak Justyna A, Lamb Allen N, Schultz Roger A, Ballif Blake C, Bejjani Bassem A, Gajecka Marzena, Shaffer Lisa G
Abstract excerpt
Although copy number changes of 5q31 have been rarely reported, deletions have been associated with some common characteristics, such as short stature, failure to thrive, developmental delay (DD)/intellectual disability (ID), club feet, dislocated hips, and dysmorphic features. We report on three individuals with deletions and two individuals with duplications at 5q31, ranging from 3.6 Mb to 8.1 Mb and 830 kb to...
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