Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Gelijkaardige items

• Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
  door: Krakow, Deborah, et al.
  Gepubliceerd in: (2009)
• A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism
  door: Han Wang, et al.
  Gepubliceerd in: (2025-11-01)
• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
  door: Landouré, Guida, et al.
  Gepubliceerd in: (2009)
• Charcot-Marie-Tooth disease type 1.
  door: Malcolm, S
  Gepubliceerd in: (1992)
• An Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia Secondary to Lamin B Receptor (LBR) Gene Mutations: Further Definition of the Phenotypic Heterogeneity of LBR-Bone Dysplasias
  door: Sobreira, Nara, et al.
  Gepubliceerd in: (2014)