Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Ítems similars

• Cranioectodermal dysplasia (Sensenbrenner's syndrome).
  per: Young, I D
  Publicat: (1989)
• Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
  per: Walczak-Sztulpa, Joanna, et al.
  Publicat: (2020)
• Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia
  per: Alazami, Anas M, et al.
  Publicat: (2014)
• WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype
  per: Bacino, Carlos A., et al.
  Publicat: (2012)
• An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
  per: Kahrizi, Kimia, et al.
  Publicat: (2009)