2017•European Journal of Medical GeneticsRequires access

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features

Pierre Vande Perre, Celia Zazo Seco, Oliver Patat, Laurence Bouneau, Adeline Vigouroux, Denis Bourgeois, Safa El Hout, Nicolas Chassaing, Patrick Calvas

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Key concepts: Haploinsufficiency, PITX2, Penetrance, Tetralogy of Fallot, Phenotype, Medicine, Genetics, Biology

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4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features — Research Paper | ScholarLens