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MINERVA PEDIATRICA

A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry


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Minerva Pediatrica 2018 Apr 12

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


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Publication History

Article first published online: April 12, 2018
Manuscript accepted: March 8, 2018
Manuscript revised: October 20, 2017
Manuscript received: June 1, 2017

Cite this article as

Pascolini G, Valiante M, Majore S, Cariola F, Laino L, Calvani M, et al. Incidental finding of an Xq microdeletion in a girl with Trichorhinophalangeal Syndrome Type I harboring a novel TRPS1 Nonsense mutation. Minerva Pediatr 2018 Apr 12. DOI: 10.23736/S0026-4946.18.05011-9

Corresponding author e-mail

giupascolini@gmail.com