Incidentalfindingof an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPSl nonsense mutation

Giulia Pascolini, Michele Valiante, Silvia Majore, Filomena Cariola, Luigi Laino, Mauro Calvani, Paola Grammatico

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)639-642
Number of pages4
JournalMinerva Pediatrica
Issue number6
Publication statusPublished - Dec 2018

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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