Managing Bardet-Biedl Syndrome-Now and in the Future

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...

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Egile Nagusiak: Elizabeth Forsythe (Egilea), Joanna Kenny (Egilea), Chiara Bacchelli (Egilea), Philip L. Beales (Egilea)
Formatua: Liburua
Argitaratua: Frontiers Media S.A., 2018-02-01T00:00:00Z.
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