Managing Bardet-Biedl Syndrome-Now and in the Future

• Asıl Yazarlar: Elizabeth Forsythe (Yazar), Joanna Kenny (Yazar), Chiara Bacchelli (Yazar), Philip L. Beales (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2018-02-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family...