Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly
K Meyertholen1, J B Ravnan2, R Matalon3
1School of Medicine, University of Texas Medical Branch, Galveston, Tex., USA.
Molecular Syndromology
|March 12, 2015
Abstract:
Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.
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