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

Benzer Materyaller

• Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
  Yazar:: Krakow, Deborah, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)
• A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism
  Yazar:: Han Wang, ve diğerleri
  Baskı/Yayın Bilgisi: (2025-11-01)
• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
  Yazar:: Landouré, Guida, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)
• Charcot-Marie-Tooth disease type 1.
  Yazar:: Malcolm, S
  Baskı/Yayın Bilgisi: (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
  Yazar:: Sobreira, Nara, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)