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Minerva Pediatrica 2018 December;70(6):639-42
DOI: 10.23736/S0026-4946.18.05011-9
Copyright © 2018 EDIZIONI MINERVA MEDICA
language: English
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation
Giulia PASCOLINI 1 ✉, Michele VALIANTE 1, Silvia MAJORE 1, Filomena CARIOLA 2, Luigi LAINO 1, Mauro CALVANI 3, Paola GRAMMATICO 1
1 Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy; 2 Medical Genetics Unit, Saverio de Bellis Institute, Castellana Grotte, Bari, Italy; 3 Division of Pediatrics, San Camillo-Forlanini Hospital, Rome, Italy