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Case report
Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication

Authors

  • Piero Pavone Department of Clinical and Experimental Sciences, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Sicilia, ItalyUnit of Pediatrics and Pediatric Emergency, University of Catania, Catania, Sicilia, Italy PubMed articlesGoogle scholar articles
  • Silvia Marino Unit of Pediatrics and Pediatric Emergency, University of Catania, Catania, Sicilia, Italy PubMed articlesGoogle scholar articles
  • Antonino Maniaci ENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy PubMed articlesGoogle scholar articles
  • Salvatore Cocuzza ENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Antonino Maniaci; tnmaniaci29{at}gmail.com
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Citation

Pavone P, Marino S, Maniaci A, et al
Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication

Publication history

  • Accepted June 12, 2020
  • First published June 30, 2020.
Online issue publication 
June 30, 2020

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