NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

M. Castori, E. M. Valente, M. A. Donati, S. Salvi, E. Fazzi, E. Procopio, T. Galluccio, F. Emma, B. Dallapiccola, E. Bertini

Research output: Contribution to journalArticle

Original languageEnglish
JournalJournal of Medical Genetics
Volume42
Issue number2
Publication statusPublished - Feb 2005

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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