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1: Title: Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Authors: Calcia, Alessandro, .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 161 (10): 2656-62, 2013 .
Snippet: In our case, array-CGH analysis documented two de novo deletions (∼1.2 Mb and ∼400 Kb) of the long arm of chromosome 4, containing four genes: platelet-derived growth factor C (PDGFC), glycine receptor beta subunit (GLRB), glutamate receptor ionotropic AMPA2 (GRIA2), and F-box protein 8 gene (FBXO8).
Affiliation: Department of Medical Sciences, University of Torino, Torino, Italy. .
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