Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Lignende værker

• A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
  af: Zufit Hexner-Erlichman, et al.
  Udgivet: (2022-05-01)
• Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
  af: Abu-Libdeh, Bassam, et al.
  Udgivet: (2021)
• Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
  af: Mor-Shaked, Hagar, et al.
  Udgivet: (2020)
• Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
  af: Sheffer, Ruth, et al.
  Udgivet: (2019)
• Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
  af: Banne, Ehud, et al.
  Udgivet: (2015)