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  • Title: Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
    Author: Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J.
    Journal: Am J Med Genet A; 2013 Jul; 161A(7):1797-802. PubMed ID: 23713051.
    Abstract:
    We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.
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