Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Ítems similars

• Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
  per: Perrault, Isabelle, et al.
  Publicat: (2012)
• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
  per: Halbritter, Jan, et al.
  Publicat: (2013)
• Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
  per: Oud, Machteld M., et al.
  Publicat: (2018)
• Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
  per: Perrault, I, et al.
  Publicat: (2015)
• Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
  per: Helm, Benjamin M., et al.
  Publicat: (2017)