Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Lorena Travaglini, Chiara Aiello, Viola Alesi, Sara Loddo, Antonio Novelli, Giulia Tozzi, Enrico Bertini, Vincenzo Leuzzi, Francesco Brancati

Research output: Contribution to journalArticle

Original languageEnglish
JournalBrain and Development
DOIs
Publication statusAccepted/In press - 2016

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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