New phenotype caused by POMGNT2 mutations

Marco Cassone; Chiara Fiorillo; Federico Zara; Carlo Vitali

doi:10.1136/bcr-2021-242358

Article info

Case report

New phenotype caused by POMGNT2 mutations

Authors

Marco Cassone Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy PubMed articles Google scholar articles
Chiara Fiorillo Pediatric Neurology and Muscular Disease Unit, DINOGMI, University of Genova, Genova, Italy PubMed articles Google scholar articles
Federico Zara Unit of Medical Genetics, IRCCS G.Gaslini, Genova, ItalyDepartment of Neurology, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy PubMed articles Google scholar articles
Carlo Vitali Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy PubMed articles Google scholar articles

Correspondence to Dr Marco Cassone; marcocassone{at}yahoo.it

View Full Text

Citation

Cassone M, Fiorillo C, Zara F, et al

New phenotype caused by POMGNT2 mutations

BMJ Case Reports CP 2021;14:e242358.

Publication history

Accepted July 4, 2021
First published July 22, 2021.

Online issue publication

July 22, 2021

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Main menu

Authors

Citation

Publication history

Request permissions

Copyright information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password