Managing Bardet-Biedl Syndrome-Now and in the Future

• मुख्य लेखकों: Elizabeth Forsythe (लेखक), Joanna Kenny (लेखक), Chiara Bacchelli (लेखक), Philip L. Beales (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2018-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...