Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome

Antzeko izenburuak

• A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
  nork: Rodríguez-García, María Elena, et al.
  Argitaratua: (2019)
• Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
  nork: Szczałuba, Krzysztof, et al.
  Argitaratua: (2021)
• Marshall-Smith syndrome: the expanding phenotype.
  nork: Williams, D K, et al.
  Argitaratua: (1997)
• Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
  nork: Besterman, Aaron D., et al.
  Argitaratua: (2021)
• Expanding the ataxia with oculomotor apraxia type 4 phenotype
  nork: Paucar, Martin, et al.
  Argitaratua: (2016)