Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Lignende værker

• Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
  af: Angius, Andrea, et al.
  Udgivet: (2016)
• Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
  af: Crisponi, Laura, et al.
  Udgivet: (2007)
• Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome
  af: Kanthi, Anil, et al.
  Udgivet: (2018)
• Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
  af: Herholz, Jana, et al.
  Udgivet: (2011)
• Simulating Cardiac Electrophysiology Using Unstructured All-Hexahedra Spectral Elements
  af: Cuccuru, Gianmauro, et al.
  Udgivet: (2015)