Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

Lignende værker

• Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
  af: Calame, Daniel G., et al.
  Udgivet: (2021)
• Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
  af: Marafi, Dana, et al.
  Udgivet: (2020)
• Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
  af: Punetha, Jaya, et al.
  Udgivet: (2019)
• Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
  af: Van Bergen, Nicole J, et al.
  Udgivet: (2020)
• Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
  af: Pehlivan, Davut, et al.
  Udgivet: (2015)