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

Autor: P Calvas, S. El Hout, Nicolas Chassaing, C. Zazo Seco, Adeline Vigouroux, Laurence Bouneau, P. Vande Perre, O. Patat, D. Bourgeois

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 61 (2), pp.72-78. ⟨10.1016/j.ejmg.2017.10.018⟩

International audience; Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f330969446e0c068008632ceb1de024
https://doi.org/10.1016/j.ejmg.2017.10.018