Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

R. Giorda, A. Cerritello, M. C. Bonaglia, S. Bova, G. Lanzi, E. Repetti, S. Giglio, C. Baschirotto, T. Pramparo, L. Avolio, R. Bragheri, P. Maraschio, O. Zuffardi

Research output: Contribution to journalArticle

Original languageEnglish
JournalJournal of Medical Genetics
Volume41
Issue number6
Publication statusPublished - Jun 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Giorda, R., Cerritello, A., Bonaglia, M. C., Bova, S., Lanzi, G., Repetti, E., Giglio, S., Baschirotto, C., Pramparo, T., Avolio, L., Bragheri, R., Maraschio, P., & Zuffardi, O. (2004). Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. Journal of Medical Genetics, 41(6).