Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

Podobne zapisy

• A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome
  od: Jain, Angita, i wsp.
  Wydane: (2020)
• Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature
  od: Selvam, Pavalan, i wsp.
  Wydane: (2020)
• Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report
  od: Jain, Angita, i wsp.
  Wydane: (2019)
• Genotype–phenotype correlations in individuals with pathogenic RERE variants
  od: Jordan, Valerie K., i wsp.
  Wydane: (2018)
• Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
  od: DeMeo, Natasha N., i wsp.
  Wydane: (2017)